Q116E (p.Gln116Glu) variant of DSC2 (Desmocollin-2)
Q116E (p.Gln116Glu) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
Q116E (p.Gln116Glu) variant details
- p.Gln116Glu
- rs1987619959
- ClinGen CA402114570
- ClinVar RCV001126681
- ClinVar RCV005328537
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.07
- MetaLR 0.12
- MetaSVM -0.97
- PolyPhen-2 0.01
- SIFT 0.50
- EVE 0.20
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- 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)