I26L (p.Ile26Leu) variant of DSC2 (Desmocollin-2)
I26L (p.Ile26Leu) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11; Familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I26L (p.Ile26Leu) variant details
- p.Ile26Leu
- rs1362597154
- ClinGen CA402115176
- ClinVar RCV003533612
- ClinVar RCV004011611
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11; Familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.07
- CADD 13.80
- PolyPhen-2 0.02
- SIFT 0.33
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)