T263M (p.Thr263Met) variant of PKP2 (Plakophilin-2)
T263M (p.Thr263Met) 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; Cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T263M (p.Thr263Met) variant details
- p.Thr263Met
- rs543758984
- ClinGen CA038749
- NCI-TCGA Cosmic COSV5073
- cosmic curated COSV50735
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.26
- MetaLR 0.42
- MetaSVM -0.67
- CADD 8.29
- PolyPhen-2 0.21
- SIFT 0.04
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-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)