P28A (p.Pro28Ala) variant of PRNP (Major prion protein)
P28A (p.Pro28Ala) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P28A (p.Pro28Ala) variant details
- p.Pro28Ala
- gnomAD 20-4699302-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.49
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available