S65L (p.Ser65Leu) variant of VHL (P40337)
S65L (p.Ser65Leu) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; Cerebellar hemangioblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
S65L (p.Ser65Leu) variant details
- p.Ser65Leu
- rs5030826
- ClinGen CA020104
- NCI-TCGA Cosmic COSV5654
- cosmic curated COSV56543
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Cerebellar hemangioblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.10
- PolyPhen-2 0.81
- SIFT 0.19
- EVE 0.63
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; Cerebellar hem)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. (PMID 8956040)
- Cited in: Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. (PMID 9829912)