R148H (p.Arg148His) variant of PRNP (Major prion protein)
R148H (p.Arg148His) 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 Huntington disease-like 1; Inherited Creutzfeldt-Jakob disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R148H (p.Arg148His) variant details
- p.Arg148His
- rs181348299
- ClinGen CA9752075
- cosmic curated COSV10105
- ClinVar RCV002009625
- Likely pathogenic
- Huntington disease-like 1; Inherited Creutzfeldt-Jakob disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.82
- CADD 24.40
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Likely pathogenic (Huntington disease-like 1; Inherited Creutzfeldt-Jakob disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Genetic Prion Disease. (PMID 20301407)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)