M1V (p.Met1Val) variant of PKP2 (Plakophilin-2)
M1V (p.Met1Val) 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 dysplasia 9; Cardiovascular phenotype; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs794729107
- ClinGen CA011630
- ClinVar RCV002890496
- ClinVar RCV006342608
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9; Cardiovascular phenotype; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- MetaLR 0.30
- MetaSVM -0.63
- PolyPhen-2 0.21
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)