W88R (p.Trp88Arg) variant of VHL (P40337)
W88R (p.Trp88Arg) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
W88R (p.Trp88Arg) variant details
- p.Trp88Arg
- rs1553619431
- Civic 1761
- ClinGen CA351750671
- cosmic curated COSV56542
- Pathogenic
- Chuvash polycythemia; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.69
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- 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: Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. (PMID 9829911)