G62V (p.Gly62Val) variant of PRNP (Major prion protein)
G62V (p.Gly62Val) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G62V (p.Gly62Val) variant details
- p.Gly62Val
- gnomAD 20-4699405-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.56
- CADD 22.50
- PolyPhen-2 0.80
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available