Y71C (p.Tyr71Cys) variant of PKP1 (Plakophilin-1)
Y71C (p.Tyr71Cys) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Y71C (p.Tyr71Cys) variant details
- p.Tyr71Cys
- ExAC rs751318467
- gnomAD rs751318467
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.49
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available