C3Y (p.Cys3Tyr) variant of DSP (Desmoplakin)
C3Y (p.Cys3Tyr) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
C3Y (p.Cys3Tyr) variant details
- p.Cys3Tyr
- rs760993985
- ClinGen CA052985
- ClinVar RCV001878417
- ExAC rs760993985
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.17
- MetaLR 0.12
- MetaSVM -0.81
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic car)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)