L256M (p.Leu256Met) variant of PKP2 (Plakophilin-2)
L256M (p.Leu256Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
L256M (p.Leu256Met) variant details
- p.Leu256Met
- rs1175956469
- ClinGen CA384362655
- ClinVar RCV003508024
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- AlphaMissense 0.17
- MetaLR 0.59
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.24
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)