T35S (p.Thr35Ser) variant of PKP1 (Plakophilin-1)
T35S (p.Thr35Ser) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T35S (p.Thr35Ser) variant details
- p.Thr35Ser
- gnomAD 1-201283805-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.09
- CADD 19.10
- PolyPhen-2 0.16
- SIFT 0.96
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available