G93V (p.Gly93Val) variant of VHL (P40337)
G93V (p.Gly93Val) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G93V (p.Gly93Val) variant details
- p.Gly93Val
- rs1553619440
- ClinGen CA351750779
- NCI-TCGA Cosmic COSV5654
- cosmic curated COSV56548
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.95
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- CADD 29.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in PCC and VHLD)
- UniProt: Pathogenic (in PCC and VHLD)
- Population evidence available
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Von Hippel-Lindau Syndrome. (PMID 20301636)