Y12C (p.Tyr12Cys) variant of PKP1 (Plakophilin-1)
Y12C (p.Tyr12Cys) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- gnomAD 1-201283737-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.27
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available