S65W (p.Ser65Trp) variant of VHL (P40337)
S65W (p.Ser65Trp) 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. 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.
S65W (p.Ser65Trp) variant details
- p.Ser65Trp
- rs5030826
- ClinGen CA020099
- NCI-TCGA Cosmic COSV5654
- Pathogenic
- Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.94
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.10
- CADD 29.20
- PolyPhen-2 0.81
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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: Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. (PMID 9829911)