REV3L S1220L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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REV3L S1220L

(REV3L Ser1220Leu)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr6:111695899: 3.2% (348/10756) in EVS
  • A @ chr6:111802591: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (348/10756)



GS19026 - var-GS19026-1100-36-ASM
het A @ chr6:111802592


Other external references

  • rs3218600
  • Score: 0.201 (possibly damaging)
    Web search results (17 hits -- see all)
  • Functional nonsynonymous single nucleotide polymorphisms from ...
    Table 3. nsSNPs altering short putative protein motifs and phosphorylation sites ... REV3L. rs3218600. NP_002903.1. 1. S1142L. S. L residue removes S1142 in EKGTSRKHI. REV3L ...
  • DNA polymerase zeta catalytic subunit - Homo sapiens (Human)
    REV3L. Synonyms: POLZ, REV3. Organism. Homo sapiens (Human) [Complete ... splicing, genomic structure, and fine chromosome localization of REV3L. ...
  • Sevtap Savas, Ian W. Taylor, Jeff L. Wrana and Hilmi Ozcelik
    REV3L-R1892H, and SNX1-D466N are predicted to alter two. motifs and ... REV3L. rs3218600. NP_002903.1. 1. S1142L. S. L residue removes S1142. in EKGTSRKHI. REV3L ...
  • .:: repairsnps ::.
    Search results for 'REV3L': Gene: REV3L. Name: REV3-like, catalytic subunit of DNA ... rs3218600. NP_002903. C>T. S>L. aa-position:1142 [ SNP analysis ] 12 ...
  • .:: repairsnps ::.
    Results for non-synonymous SNP at position 1142 in REV3L (NP_002903) ... rs3218600. RefSeq ID. NP_002903 [ View FASTA sequence ] Reference allele. C. Non-synonymous ...
  • HMDB01532.txt
    ... Metabolic_Enzyme_1_Gene_Name: REV3L # Metabolic_Enzyme_1_Protein_Sequence: >DNA ... Metabolic_Enzyme_1_SNPs: rs462779; rs3218599; rs3218600; rs3218595; rs458017; rs3204953; ...
  • HMDB01342.txt
    ... TTP; thymidine triphosphate; thymidine 5'-triphosphate; dTTP; Thymidine ... Deoxy-TTP; Deoxythymidine 5'-triphosphate; Deoxythymidine triphosphate; TTP ...
  • HMDB01532.txt
    ... 5'-DATP; Deoxyadenosine 5'-triphosphate; Deoxyadenosine triphosphate; dATP ... phosphoryl]oxy-hydroxy-phosphoryl]oxyphosphonic acid # Chemical_Formula: ...
  • HMDB01440.txt
    ... Deoxyguanosine 5'-triphosphate; 2'-Deoxyguanosine triphosphate; 5'-DGTP; Deoxy ... oxyphosphonic acid # Chemical_Formula: C10H16N5O13P3 # Chemical_Structure: ...
  • UniProt: O60673
    ... like; DE Short=hREV3; GN Name=REV3L; Synonyms=POLZ, REV3; OS Homo sapiens (Human) ... splicing, genomic structure, and fine chromosome RT localization of REV3L."; RL Cytogenet. ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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