W88C (p.Trp88Cys) variant of VHL (P40337)
W88C (p.Trp88Cys) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
W88C (p.Trp88Cys) variant details
- p.Trp88Cys
- rs869025622
- ClinGen CA351750678
- cosmic curated COSV56550
- ClinVar RCV000704506
- Pathogenic
- Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.94
- MetaLR 1.00
- MetaSVM 0.81
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)