A133V (p.Ala133Val) variant of PRNP (Major prion protein)
A133V (p.Ala133Val) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gerstmann-Straussler-Scheinker syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
A133V (p.Ala133Val) variant details
- p.Ala133Val
- rs74315415
- ClinGen CA256786
- ClinVar RCV000014356
- Ensembl rs74315415
- Pathogenic
- Gerstmann-Straussler-Scheinker syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.19
- MetaLR 0.81
- MetaSVM 0.83
- PolyPhen-2 0.02
- SIFT 0.01
- EVE 0.33
- ClinVar: Pathogenic (Gerstmann-Straussler-Scheinker syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Novel prion protein gene mutation presenting with subacute PSP-like syndrome. (PMID 17353478)
- Cited in: Genetic Prion Disease. (PMID 20301407)