P28L (p.Pro28Leu) variant of PRNP (Major prion protein)
P28L (p.Pro28Leu) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- gnomAD 20-4699303-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.62
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available