K107R (p.Lys107Arg) variant of DSC2 (Desmocollin-2)
K107R (p.Lys107Arg) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial isolated arrhythmogenic right ventricular dysplasia; Cardiomyopathy; Ar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K107R (p.Lys107Arg) variant details
- p.Lys107Arg
- rs1743965498
- ClinGen CA402114632
- ClinVar RCV004013769
- ClinVar RCV005064975
- Uncertain significance
- Familial isolated arrhythmogenic right ventricular dysplasia; Cardiomyopathy; Ar
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.02
- CADD 14.80
- PolyPhen-2 0.33
- SIFT 0.13
- ClinVar: Uncertain significance (Familial isolated arrhythmogenic right ventricular dysplasia; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)