G131E (p.Gly131Glu) variant of PRNP (Major prion protein)
G131E (p.Gly131Glu) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gerstmann-Straussler-Scheinker syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
G131E (p.Gly131Glu) variant details
- p.Gly131Glu
- rs74315410
- ClinGen CA408152247
- ClinVar RCV001809309
- ExAC rs74315410
- Likely pathogenic
- Gerstmann-Straussler-Scheinker syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- ClinVar: Likely pathogenic (Gerstmann-Straussler-Scheinker syndrome)
- EBI: Pathogenic (in GSD)
- UniProt: Pathogenic (in GSD)
- Structural context available
- Cited in: Genetic Prion Disease. (PMID 20301407)