Y12Y (p.Tyr12Tyr) variant of PKP1 (Plakophilin-1)
Y12Y (p.Tyr12Tyr) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Y12Y (p.Tyr12Tyr) variant details
- p.Tyr12Tyr
- rs2268147
- gnomAD 1-201283738-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 13.70
- Population evidence available
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)