A5S (p.Ala5Ser) variant of VHL (P40337)
A5S (p.Ala5Ser) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- rs1559425498
- ClinGen CA351747028
- ClinVar RCV002046234
- ClinVar RCV002391137
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.11
- AlphaMissense 0.09
- MetaLR 0.35
- MetaSVM -0.61
- CADD 22.20
- PolyPhen-2 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)