PKD1 F3066L - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!


PKD1 F3066L

(PKD1 Phe3066Leu)

Short summary


Variant evidence
Computational 1

SIFT: Affect protein function 0.000
Variant Effect Predictor (Ensembl ):
Mutation Tasting prediction: Polymorphism p value: 0.811719; Protein features (might be) affected (TOPO_DOM Extracellular (Potential) gets lost).
GVGD: GV 0.00; GD 21.82; Class C15
Multi-alignment of P98161.3 [Homo sapiens] with: NP_001006651.1 [Canis lupus familiaris] CBZ01637.1 [Sus scrofa] XP_003124778.1 [Sus scrofa] CBZ01638.1 [Sus scrofa] AAM22956.1 [Canis lupus familiaris] XP_002727800.1 [Rattus norvegicus] XP_002727799.1 [Rattus norvegicus] EDL22340.1 [Mus musculus] O08852.1 [Mus musculus] AAG33986.1 [Rattus norvegicus]

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

  • G @ chr16:2152387: 16.1% (1652/10268) in EVS
  • GG @ chr16:2092387: 7.5% (6/80) in GET-Evidence
  • Frequency shown in summary reports: 16.1% (1652/10268)



hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het GG @ chr16:2152387


hu43860C - CGI sample GS00253-DNA_A01_200_37
het GG @ chr16:2152387



hu9385BA - CGI sample GS00253-DNA_E01_200_37
het GG @ chr16:2152387


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het GG @ chr16:2152387


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het GG @ chr16:2152387


GS19025 - var-GS19025-1100-36-ASM
het GG @ chr16:2092388


GS19701 - var-GS19701-1100-36-ASM
het GG @ chr16:2092388


GS19704 - var-GS19704-1100-36-ASM
het GG @ chr16:2092388


GS21767 - var-GS21767-1100-36-ASM
het GG @ chr16:2092388




Other external references

  • rs9935834
  • rs9925969
  • GeneTests records for the PKD1 gene
    Polycystic Kidney Disease 1, Autosomal Dominant
    Polycystic Kidney Disease, Autosomal Dominant
  • Score: 0.996 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

Log in