R120G (p.Arg120Gly) variant of VHL (P40337)
R120G (p.Arg120Gly) 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; Chuvash polycythemia; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R120G (p.Arg120Gly) variant details
- p.Arg120Gly
- rs869025642
- ClinGen CA357028
- NCI-TCGA Cosmic COSV5654
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- EVE 0.62
- MutPred 0.94
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)