G77D (p.Gly77Asp) variant of DSC2 (Desmocollin-2)
G77D (p.Gly77Asp) 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; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G77D (p.Gly77Asp) variant details
- p.Gly77Asp
- rs761544006
- ClinGen CA402114828
- ClinVar RCV001176382
- ClinVar RCV004032995
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.82
- MetaLR 0.85
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)