R16Q (p.Arg16Gln) variant of DSC2 (Desmocollin-2)
R16Q (p.Arg16Gln) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- rs869025386
- ClinGen CA402115243
- ClinVar RCV000774443
- ClinVar RCV002334444
- Conflicting interpretations
- Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.12
- AlphaMissense 0.14
- MetaLR 0.09
- MetaSVM -1.04
- CADD 13.20
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right v)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 8.7e-05)
- 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)