V45V (p.Val45Val) variant of PKP1 (Plakophilin-1)
V45V (p.Val45Val) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V45V (p.Val45Val) variant details
- p.Val45Val
- rs1234362892
- gnomAD 1-201283837-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 17.20
- Population evidence available
- Structural context available
- Literature evidence available