I96L (p.Ile96Leu) variant of DSC2 (Desmocollin-2)
I96L (p.Ile96Leu) in DSC2 (Desmocollin-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 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
I96L (p.Ile96Leu) variant details
- p.Ile96Leu
- rs772447450
- ClinGen CA402114711
- ClinVar RCV003146862
- ExAC rs772447450
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.10
- MetaLR 0.11
- MetaSVM -0.93
- PolyPhen-2 0.72
- SIFT 0.37
- EVE 0.41
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11)
- 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)