V49I (p.Val49Ile) variant of PKP1 (Plakophilin-1)
V49I (p.Val49Ile) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- gnomAD 1-201283847-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.09
- CADD 22.30
- PolyPhen-2 0.97
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available