R208C (p.Arg208Cys) variant of PRNP (Major prion protein)
R208C (p.Arg208Cys) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R208C (p.Arg208Cys) variant details
- p.Arg208Cys
- rs55826236
- ClinGen CA9752110
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10105
- Uncertain significance
- Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.84
- CADD 28.30
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Huntington disease-like 1)
- EBI: Variant of uncertain significance (in CJD)
- UniProt: Uncertain significance (in CJD)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Genetic Prion Disease. (PMID 20301407)