V45E (p.Val45Glu) variant of PKP1 (Plakophilin-1)
V45E (p.Val45Glu) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V45E (p.Val45Glu) variant details
- p.Val45Glu
- gnomAD 1-201283836-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.22
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available