P39A (p.Pro39Ala) variant of PRNP (Major prion protein)
P39A (p.Pro39Ala) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- gnomAD 20-4699335-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.73
- CADD 24.00
- PolyPhen-2 0.61
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available