V49A (p.Val49Ala) variant of PKP1 (Plakophilin-1)
V49A (p.Val49Ala) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V49A (p.Val49Ala) variant details
- p.Val49Ala
- gnomAD 1-201283848-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.13
- CADD 29.30
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available