K108N (p.Lys108Asn) variant of DSC2 (Desmocollin-2)
K108N (p.Lys108Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
K108N (p.Lys108Asn) variant details
- p.Lys108Asn
- rs779651366
- NCI-TCGA Cosmic COSV9919
- cosmic curated COSV99199
- ClinGen CA402114622
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.0921
- REVEL 0.04
- CADD 13.70
- PolyPhen-2 0.03
- SIFT 0.07
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)