P50R (p.Pro50Arg) variant of PRNP (Major prion protein)
P50R (p.Pro50Arg) in PRNP (Major prion protein) is a missense change. 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.
P50R (p.Pro50Arg) variant details
- p.Pro50Arg
- TOPMed rs1379757697
- gnomAD rs1379757697
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.66
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available