T229I (p.Thr229Ile) variant of PKP2 (Plakophilin-2)
T229I (p.Thr229Ile) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular cardiomyopathy. The record also includes structural context.
T229I (p.Thr229Ile) variant details
- p.Thr229Ile
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99297
- Ensembl rs1956952096
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular cardiomyopathy)
- UniProt: Uncertain significance
- Structural context available