N103K (p.Asn103Lys) variant of DSC2 (Desmocollin-2)
N103K (p.Asn103Lys) 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; Arrhythmogenic right ventricular dysplasia 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N103K (p.Asn103Lys) variant details
- p.Asn103Lys
- rs1484070582
- ClinGen CA402114661
- ClinVar RCV001057845
- ClinVar RCV002320307
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.10
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)