H187R (p.His187Arg) variant of PRNP (Major prion protein)
H187R (p.His187Arg) 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; Spongiform encephalopathy with neuropsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
H187R (p.His187Arg) variant details
- p.His187Arg
- rs74315413
- ClinGen CA123096
- ClinVar RCV000014353
- ClinVar RCV000014354
- Pathogenic
- Gerstmann-Straussler-Scheinker syndrome; Spongiform encephalopathy with neuropsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- AlphaMissense 0.85
- MetaLR 0.80
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.24
- ClinVar: Pathogenic (Gerstmann-Straussler-Scheinker syndrome; Spongiform encephalopat)
- EBI: Pathogenic (in GSD)
- UniProt: Pathogenic (in GSD)
- Structural context available
- Cited in: Novel PRNP sequence variant associated with familial encephalopathy. (PMID 10581485)
- Cited in: Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study. (PMID 10953183)