M70K (p.Met70Lys) variant of PKP1 (Plakophilin-1)
M70K (p.Met70Lys) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
M70K (p.Met70Lys) variant details
- p.Met70Lys
- gnomAD 1-201293948-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.31
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available