R92K (p.Arg92Lys) variant of DSC2 (Desmocollin-2)
R92K (p.Arg92Lys) 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; Cardiomyopathy; Familial isolated arrhythmogenic right. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R92K (p.Arg92Lys) variant details
- p.Arg92Lys
- rs894057474
- ClinGen CA297644385
- ClinVar RCV004013374
- ClinVar RCV005555100
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Familial isolated arrhythmogenic right
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.03
- CADD 15.90
- PolyPhen-2 0.17
- SIFT 0.72
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Familial isolated arrh)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)