K107N (p.Lys107Asn) variant of DSC2 (Desmocollin-2)
K107N (p.Lys107Asn) 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; Familial isolated arrhythmogenic right ventricular dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K107N (p.Lys107Asn) variant details
- p.Lys107Asn
- rs140856220
- ClinGen CA037677
- ClinVar RCV000254167
- ClinVar RCV000786114
- Uncertain significance
- Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.32
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial isolated arrhythmogenic right)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)