I26M (p.Ile26Met) variant of DSC2 (Desmocollin-2)
I26M (p.Ile26Met) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial isolated arrhythmogenic right ventricular dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
I26M (p.Ile26Met) variant details
- p.Ile26Met
- rs1304893383
- ClinGen CA402115172
- ClinVar RCV004014051
- TOPMed rs1304893383
- Uncertain significance
- Familial isolated arrhythmogenic right ventricular dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.09
- CADD 10.80
- PolyPhen-2 0.35
- SIFT 0.10
- ClinVar: Uncertain significance (Familial isolated arrhythmogenic right ventricular dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available