P102L (p.Pro102Leu) variant of PRNP (Major prion protein)
P102L (p.Pro102Leu) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Gerstmann-Straussler-Scheinker syndrome; Huntington disease-like 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P102L (p.Pro102Leu) variant details
- p.Pro102Leu
- rs74315401
- UniProt VAR 006464
- Ensembl rs74315401
- Pathogenic
- not provided; Gerstmann-Straussler-Scheinker syndrome; Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.93
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Gerstmann-Straussler-Scheinker syndrome; Huntingto)
- EBI: Pathogenic (in GSD and early-onset dementia)
- UniProt: Pathogenic (in GSD and early-onset dementia)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four… (PMID 10631141)
- Cited in: Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome. (PMID 2564168)