A24V (p.Ala24Val) variant of PKP1 (Plakophilin-1)
A24V (p.Ala24Val) 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.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- gnomAD 1-201283773-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.16
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available