Y80C (p.Tyr80Cys) variant of DSC2 (Desmocollin-2)
Y80C (p.Tyr80Cys) 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; Cardiovascular phenotype; not spe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y80C (p.Tyr80Cys) variant details
- p.Tyr80Cys
- rs369761766
- ClinGen CA036601
- ClinVar RCV001302916
- ClinVar RCV002447297
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11; Cardiovascular phenotype; not spe
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.26
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11; Cardiovascular ph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- 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)