P86S (p.Pro86Ser) variant of VHL (P40337)
P86S (p.Pro86Ser) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P86S (p.Pro86Ser) variant details
- p.Pro86Ser
- rs398123481
- ClinGen CA020180
- cosmic curated COSV56546
- ClinVar RCV000155449
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.88
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.00
- CADD 25.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; V)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Population evidence available
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. (PMID 9829912)