H38Q (p.His38Gln) variant of DSC2 (Desmocollin-2)
H38Q (p.His38Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
H38Q (p.His38Gln) variant details
- p.His38Gln
- rs1987672342
- ClinGen CA16622092
- ClinVar RCV001898822
- Ensembl rs1987672342
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.09
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.51
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)