W8R (p.Trp8Arg) variant of VHL (P40337)
W8R (p.Trp8Arg) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
W8R (p.Trp8Arg) variant details
- p.Trp8Arg
- rs1352171735
- ClinGen CA351747057
- ClinVar RCV000559388
- ClinVar RCV003478129
- Conflicting interpretations
- Von Hippel-Lindau syndrome; Chuvash polycythemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.24
- MetaLR 0.34
- MetaSVM -0.72
- CADD 1.55
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (Von Hippel-Lindau syndrome; Chuvash polycythemia; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)