R48H (p.Arg48His) variant of PRNP (Major prion protein)
R48H (p.Arg48His) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inherited prion disease; Huntington disease-like 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R48H (p.Arg48His) variant details
- p.Arg48His
- cosmic curated COSV10582
- TOPMed rs945136467
- gnomAD rs945136467
- Conflicting interpretations
- not provided; Inherited prion disease; Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.47
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inherited prion disease; Huntington disease-like 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available