L255P (p.Leu255Pro) variant of PKP2 (Plakophilin-2)
L255P (p.Leu255Pro) 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 0.61 / 1. The record also includes published literature and structural context.
L255P (p.Leu255Pro) variant details
- p.Leu255Pro
- rs1956951118
- ClinGen CA384362658
- ClinVar RCV003507129
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.65
- MetaLR 0.74
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- 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)