M1L (p.Met1Leu) variant of PKP2 (Plakophilin-2)
M1L (p.Met1Leu) 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 dysplasia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs794729107
- ClinGen CA384371856
- ClinVar RCV003508864
- ClinGen CA384371855
- Likely pathogenic
- Arrhythmogenic right ventricular dysplasia 9
- 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: Likely pathogenic (Arrhythmogenic right ventricular dysplasia 9)
- 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)