H65D (p.His65Asp) variant of DSC2 (Desmocollin-2)
H65D (p.His65Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
H65D (p.His65Asp) variant details
- p.His65Asp
- rs2144846957
- ClinGen CA402114916
- ClinVar RCV002039714
- ClinVar RCV004038869
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- AlphaMissense 0.12
- MetaLR 0.12
- MetaSVM -0.94
- PolyPhen-2 0.47
- SIFT 0.21
- EVE 0.37
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11; Cardiovascular ph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)