L277R (p.Leu277Arg) variant of PKP2 (Plakophilin-2)
L277R (p.Leu277Arg) 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 0.39 / 1. The record also includes published literature and structural context.
L277R (p.Leu277Arg) variant details
- p.Leu277Arg
- rs772827289
- ClinGen CA384362239
- ClinVar RCV003507193
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.08
- MetaLR 0.37
- MetaSVM -0.76
- PolyPhen-2 0.76
- SIFT 0.02
- EVE 0.19
- 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)