T229S (p.Thr229Ser) variant of PKP2 (Plakophilin-2)
T229S (p.Thr229Ser) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T229S (p.Thr229Ser) variant details
- p.Thr229Ser
- rs1956952096
- NCI-TCGA Cosmic COSV5073
- cosmic curated COSV50735
- ClinGen CA384363369
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.20
- MetaLR 0.35
- MetaSVM -0.86
- CADD 0.35
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)