I96V (p.Ile96Val) variant of DSC2 (Desmocollin-2)
I96V (p.Ile96Val) 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; not specified; Familial isolated arrhythmogenic right. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I96V (p.Ile96Val) variant details
- p.Ile96Val
- rs772447450
- ClinGen CA037600
- ClinVar RCV000457866
- ClinVar RCV000776323
- Uncertain significance
- Cardiovascular phenotype; not specified; Familial isolated arrhythmogenic right
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.14
- AlphaMissense 0.10
- MetaLR 0.11
- MetaSVM -0.93
- CADD 19.40
- PolyPhen-2 0.72
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Familial isolated arrhy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)