L32M (p.Leu32Met) variant of PKP2 (Plakophilin-2)
L32M (p.Leu32Met) 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 population frequency data, published literature, and structural context.
L32M (p.Leu32Met) variant details
- p.Leu32Met
- rs2541384760
- ClinGen CA384371469
- ClinVar RCV003508174
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.28
- MetaLR 0.66
- MetaSVM 0.21
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)