R16G (p.Arg16Gly) variant of DSC2 (Desmocollin-2)
R16G (p.Arg16Gly) 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 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
R16G (p.Arg16Gly) variant details
- p.Arg16Gly
- rs1987975647
- ClinGen CA402115245
- ClinVar RCV003631505
- ClinVar RCV005554994
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.0633
- REVEL 0.05
- CADD 2.83
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-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)