M31V (p.Met31Val) variant of PKP1 (Plakophilin-1)
M31V (p.Met31Val) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
M31V (p.Met31Val) variant details
- p.Met31Val
- ESP rs370900946
- ExAC rs370900946
- TOPMed rs370900946
- gnomAD rs370900946
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.02
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available