S57T (p.Ser57Thr) variant of PKP1 (Plakophilin-1)
S57T (p.Ser57Thr) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S57T (p.Ser57Thr) variant details
- p.Ser57Thr
- gnomAD 1-201283871-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.06
- CADD 26.40
- PolyPhen-2 0.19
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available