A9V (p.Ala9Val) variant of PKP1 (Plakophilin-1)
A9V (p.Ala9Val) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD 1-201283728-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.27
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available