P39Q (p.Pro39Gln) variant of PRNP (Major prion protein)
P39Q (p.Pro39Gln) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P39Q (p.Pro39Gln) variant details
- p.Pro39Gln
- gnomAD 20-4699336-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.72
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available