I109L (p.Ile109Leu) variant of DSC2 (Desmocollin-2)
I109L (p.Ile109Leu) 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; Cardiovascular phenotype; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I109L (p.Ile109Leu) variant details
- p.Ile109Leu
- rs1256252633
- ClinGen CA402114621
- ClinVar RCV000620914
- ClinVar RCV000786113
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11; Cardiovascular phenotype; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.05
- CADD 13.60
- PolyPhen-2 0.04
- SIFT 0.10
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11; Cardiovascular ph)
- 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)