R5G (p.Arg5Gly) variant of DSC2 (Desmocollin-2)
R5G (p.Arg5Gly) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiomyopathy. 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.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- rs1987978697
- ClinGen CA402115311
- ClinVar RCV001183572
- Ensembl rs1987978697
- Likely benign
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0584
- REVEL 0.02
- CADD 0.66
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Likely benign (Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)