Y194C (p.Tyr194Cys) variant of PKP2 (Plakophilin-2)
Y194C (p.Tyr194Cys) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
Y194C (p.Tyr194Cys) variant details
- p.Tyr194Cys
- rs2541341229
- ClinGen CA384364271
- ClinVar RCV004160394
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available