M46* (p.Met46Ter) variant of PKP1 (Plakophilin-1)
M46* (p.Met46Ter) in PKP1 (Plakophilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
M46* (p.Met46Ter) variant details
- p.Met46Ter
- gnomAD 1-201283837-GA-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 29.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available