R167Q (p.Arg167Gln) variant of VHL (P40337)
R167Q (p.Arg167Gln) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R167Q (p.Arg167Gln) variant details
- p.Arg167Gln
- rs5030821
- ClinGen CA020454
- NCI-TCGA Cosmic COSV5654
- cosmic curated COSV56547
- Pathogenic
- Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- MutPred 0.91
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in PCC and VHLD)
- UniProt: Pathogenic (in PCC and VHLD)
- Population evidence available
- 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)