V41V (p.Val41Val) variant of PKP1 (Plakophilin-1)
V41V (p.Val41Val) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V41V (p.Val41Val) variant details
- p.Val41Val
- rs771727242
- gnomAD 1-201283825-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 12.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available