M1T (p.Met1Thr) variant of PKP2 (Plakophilin-2)
M1T (p.Met1Thr) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy; Arrhythmogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1957129506
- ClinGen CA384371851
- ClinVar RCV001178978
- ClinVar RCV001875915
- Likely pathogenic
- Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy; Arrhythmogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- MetaLR 0.35
- MetaSVM -0.35
- PolyPhen-2 0.56
- SIFT 0.00
- MutPred 1.00
- ClinVar: Likely pathogenic (Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)