S4T (p.Ser4Thr) variant of PKP1 (Plakophilin-1)
S4T (p.Ser4Thr) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S4T (p.Ser4Thr) variant details
- p.Ser4Thr
- gnomAD 1-201283712-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.14
- CADD 27.50
- PolyPhen-2 0.19
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available