R25H (p.Arg25His) variant of PRNP (Major prion protein)
R25H (p.Arg25His) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Huntington disease-like 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R25H (p.Arg25His) variant details
- p.Arg25His
- rs146939732
- ClinGen CA311093172
- ClinVar RCV002922918
- ESP rs146939732
- Uncertain significance
- Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.51
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Huntington disease-like 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Genetic Prion Disease. (PMID 20301407)