R48C (p.Arg48Cys) variant of PRNP (Major prion protein)
R48C (p.Arg48Cys) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- TOPMed rs11538764
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.56
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available