A11A (p.Ala11Ala) variant of PKP1 (Plakophilin-1)
A11A (p.Ala11Ala) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A11A (p.Ala11Ala) variant details
- p.Ala11Ala
- rs1409504390
- gnomAD 1-201283735-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.67
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available