Q217R (p.Gln217Arg) variant of PRNP (Major prion protein)
Q217R (p.Gln217Arg) 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 PRNP-related disorder; Huntington disease-like 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
Q217R (p.Gln217Arg) variant details
- p.Gln217Arg
- rs74315406
- ClinGen CA256780
- ClinVar RCV000014341
- ClinVar RCV001851852
- Likely pathogenic
- PRNP-related disorder; Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.76
- MetaLR 0.78
- MetaSVM 0.83
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.42
- ClinVar: Likely pathogenic (PRNP-related disorder; Huntington disease-like 1)
- EBI: Pathogenic (in GSD)
- UniProt: Pathogenic (in GSD)
- Structural context available
- Cited in: Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles. (PMID 1363810)
- Cited in: Novel PRNP sequence variant associated with familial encephalopathy. (PMID 10581485)