R25L (p.Arg25Leu) variant of PRNP (Major prion protein)
R25L (p.Arg25Leu) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R25L (p.Arg25Leu) variant details
- p.Arg25Leu
- gnomAD 20-4699294-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.57
- CADD 25.90
- PolyPhen-2 0.88
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available