Q104L (p.Gln104Leu) variant of DSC2 (Desmocollin-2)
Q104L (p.Gln104Leu) 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 0.33 / 1. The record also includes published literature and structural context.
Q104L (p.Gln104Leu) variant details
- p.Gln104Leu
- rs1987621652
- ClinGen CA402114654
- ClinVar RCV001307875
- Ensembl rs1987621652
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- AlphaMissense 0.10
- MetaLR 0.13
- MetaSVM -0.99
- PolyPhen-2 0.01
- SIFT 0.33
- EVE 0.28
- 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)