R167W (p.Arg167Trp) variant of VHL (P40337)
R167W (p.Arg167Trp) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R167W (p.Arg167Trp) variant details
- p.Arg167Trp
- rs5030820
- Civic 1747
- ClinGen CA020450
- NCI-TCGA Cosmic COSV5654
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.87
- MetaLR 0.99
- MetaSVM 1.02
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; V)
- EBI: Pathogenic (in PCC and VHLD)
- UniProt: Pathogenic (in PCC and VHLD)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)
- Cited in: Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene. (PMID 7784063)