G14S (p.Gly14Ser) variant of VHL (P40337)
G14S (p.Gly14Ser) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Chuvash polycythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- rs1060503559
- ClinGen CA351747168
- ClinVar RCV001316987
- ClinVar RCV001569177
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.21
- MetaLR 0.55
- MetaSVM -0.43
- CADD 14.80
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Chuvash p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)