Q72H (p.Gln72His) variant of DSC2 (Desmocollin-2)
Q72H (p.Gln72His) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q72H (p.Gln72His) variant details
- p.Gln72His
- rs767293228
- ClinGen CA035235
- ClinVar RCV001961412
- ClinVar RCV002425344
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.10
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11; Cardiovascular ph)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)