F198S (p.Phe198Ser) variant of PRNP (Major prion protein)
F198S (p.Phe198Ser) 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 0.71 / 1. The record also includes published literature and structural context.
F198S (p.Phe198Ser) variant details
- p.Phe198Ser
- rs74315405
- ClinGen CA256779
- ClinVar RCV000014340
- ClinVar RCV000644586
- Pathogenic
- not provided; Gerstmann-Straussler-Scheinker syndrome; Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.97
- MetaLR 0.79
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.22
- ClinVar: Pathogenic (not provided; Gerstmann-Straussler-Scheinker syndrome; Huntingto)
- EBI: Pathogenic (in GSD)
- UniProt: Pathogenic (in GSD)
- Structural context available
- Cited in: Disease-associated F198S mutation increases the propensity of the recombinant prion protein for conformational… (PMID 12372829)
- Cited in: Prion protein preamyloid and amyloid deposits in Gerstmann-Sträussler-Scheinker disease, Indiana kindred. (PMID 1357663)