R208H (p.Arg208His) variant of PRNP (Major prion protein)
R208H (p.Arg208His) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PRNP-related disorder; not provided; Huntington disease-like 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R208H (p.Arg208His) variant details
- p.Arg208His
- rs74315412
- ClinGen CA256785
- cosmic curated COSV10105
- ClinVar RCV000014352
- Pathogenic/Likely pathogenic
- PRNP-related disorder; not provided; Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.67
- CADD 24.50
- PolyPhen-2 0.81
- SIFT 0.16
- ClinVar: Pathogenic/Likely pathogenic (PRNP-related disorder; not provided; Huntington disease-like 1)
- EBI: Pathogenic (in CJD)
- UniProt: Pathogenic (in CJD)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene. (PMID 15753435)
- Cited in: Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques. (PMID 16533975)