A9S (p.Ala9Ser) variant of PKP1 (Plakophilin-1)
A9S (p.Ala9Ser) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 1-201283727-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.33
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available