H3H (p.His3His) variant of PKP1 (Plakophilin-1)
H3H (p.His3His) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
H3H (p.His3His) variant details
- p.His3His
- gnomAD 1-201283711-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available