M47V (p.Met47Val) variant of PKP1 (Plakophilin-1)
M47V (p.Met47Val) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M47V (p.Met47Val) variant details
- p.Met47Val
- gnomAD rs1482053129
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.10
- CADD 25.40
- PolyPhen-2 0.83
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available