R25C (p.Arg25Cys) variant of PRNP (Major prion protein)
R25C (p.Arg25Cys) in PRNP (Major prion protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- rs751211144
- ExAC rs751211144
- TOPMed rs751211144
- gnomAD rs751211144
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.64
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available