T162M (p.Thr162Met) variant of PKP2 (Plakophilin-2)
T162M (p.Thr162Met) 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; Arrhythmogenic right ventricular cardiomyopathy; Cardi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T162M (p.Thr162Met) variant details
- p.Thr162Met
- rs759687672
- ClinGen CA037611
- ClinVar RCV001181600
- ClinVar RCV001220028
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular cardiomyopathy; Cardi
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.13
- MetaLR 0.26
- MetaSVM -0.85
- CADD 1.70
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)