V111L (p.Val111Leu) variant of DSC2 (Desmocollin-2)
V111L (p.Val111Leu) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial isolated arrhythmogenic right ventricular dysplasia; Arrhythmogenic rig. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
V111L (p.Val111Leu) variant details
- p.Val111Leu
- rs1987620497
- ClinGen CA402114607
- ClinVar RCV001179468
- ClinVar RCV004006566
- Uncertain significance
- Familial isolated arrhythmogenic right ventricular dysplasia; Arrhythmogenic rig
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- AlphaMissense 0.31
- MetaLR 0.25
- MetaSVM -0.53
- PolyPhen-2 0.76
- SIFT 0.02
- EVE 0.73
- ClinVar: Uncertain significance (Familial isolated arrhythmogenic right ventricular dysplasia; Ar)
- 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)