I26V (p.Ile26Val) variant of DSC2 (Desmocollin-2)
I26V (p.Ile26Val) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiomyopathy. 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.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- rs1362597154
- ClinGen CA402115177
- ClinVar RCV003518404
- TOPMed rs1362597154
- Likely benign
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.08
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Likely benign (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.1e-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)