V49V (p.Val49Val) variant of PKP1 (Plakophilin-1)
V49V (p.Val49Val) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V49V (p.Val49Val) variant details
- p.Val49Val
- gnomAD 1-201283849-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available