I109M (p.Ile109Met) variant of DSC2 (Desmocollin-2)
I109M (p.Ile109Met) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial isolated arrhythmogenic right ventricular dysplasia; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
I109M (p.Ile109Met) variant details
- p.Ile109Met
- rs373305929
- ClinGen CA022791
- ClinVar RCV000039433
- ClinVar RCV000625301
- Conflicting interpretations
- Familial isolated arrhythmogenic right ventricular dysplasia; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.0628
- REVEL 0.06
- CADD 1.88
- PolyPhen-2 0.19
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Familial isolated arrhythmogenic right ventricular dysplasia; Ca)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0016)
- 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)