NRP1 F561L - GET-Evidence

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

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NRP1 F561L

(NRP1 Phe561Leu)

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

  • C @ chr10:33496576: 0.8% (83/10758) in EVS
  • C @ chr10:33536581: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (83/10758)



hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr10:33496576


Other external references

  • rs78398035
    Web search results (4 hits -- see all)
  • Neuropilin-1 precursor - Homo sapiens (Human)
    NRP1. Synonyms: NRP, VEGF165R. Organism. Homo sapiens (Human) [Complete ... F L: dbSNP rs2228637. VAR_046537. Natural variant. 733. 1. V I: dbSNP ...
  • NRP1 Gene - GeneCards | NRP1 Protein | NRP1 Antibody
    EntrezGene summary for NRP1: NRP1 is a membrane-bound coreceptor to a ... NRP1 Gene in genomic location: bands according to Ensembl, locations according ...
  • UniProt: NRP1_HUMAN
    AC O14786; B0LPG9; O60461; Q5T7F2; Q5T7F3; Q96IH5; DT 30-MAY-2000, integrated into ... DE Flags: Precursor; GN Name=NRP1; Synonyms=NRP, VEGF165R; OS Homo ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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