G131V (p.Gly131Val) variant of PRNP (Major prion protein)
G131V (p.Gly131Val) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gerstmann-Straussler-Scheinker syndrome; Huntington disease-like 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G131V (p.Gly131Val) variant details
- p.Gly131Val
- rs74315410
- ClinGen CA256784
- NCI-TCGA Cosmic COSV6517
- cosmic curated COSV65173
- Pathogenic/Likely pathogenic
- Gerstmann-Straussler-Scheinker syndrome; Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.86
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.95
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Gerstmann-Straussler-Scheinker syndrome; Huntington disease-like)
- EBI: Pathogenic (in GSD)
- UniProt: Pathogenic (in GSD)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. (PMID 11709001)
- Cited in: Novel PRNP sequence variant associated with familial encephalopathy. (PMID 10581485)