V39I (p.Val39Ile) variant of DSC2 (Desmocollin-2)
V39I (p.Val39Ile) 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; Familial isolated arrhythmogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V39I (p.Val39Ile) variant details
- p.Val39Ile
- rs1447651355
- ClinGen CA402115089
- ClinVar RCV000644637
- ClinVar RCV001187678
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11; Familial isolated arrhythmogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.11
- CADD 19.00
- PolyPhen-2 0.65
- SIFT 0.12
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11; Familial isolated)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)