T8T (p.Thr8Thr) variant of PKP1 (Plakophilin-1)
T8T (p.Thr8Thr) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T8T (p.Thr8Thr) variant details
- p.Thr8Thr
- gnomAD 1-201283726-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available