N83S (p.Asn83Ser) variant of DSC2 (Desmocollin-2)
N83S (p.Asn83Ser) 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 0.18 / 1. The record also includes population frequency data and structural context.
N83S (p.Asn83Ser) variant details
- p.Asn83Ser
- rs1226238061
- ClinGen CA402114793
- ClinVar RCV002430906
- ClinVar RCV004808342
- Uncertain significance
- Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.10
- CADD 14.80
- PolyPhen-2 0.05
- SIFT 0.53
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial isolated arrhythmogenic right)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available