A11V (p.Ala11Val) variant of PKP1 (Plakophilin-1)
A11V (p.Ala11Val) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- TOPMed rs910380119
- gnomAD rs910380119
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.36
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available