N62K (p.Asn62Lys) variant of DSC2 (Desmocollin-2)
N62K (p.Asn62Lys) 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; Familial isolated arrhythmogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
N62K (p.Asn62Lys) variant details
- p.Asn62Lys
- rs748644229
- ClinGen CA033456
- ClinVar RCV001212326
- ClinVar RCV004010688
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11; Familial isolated arrhythmogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.12
- CADD 13.80
- PolyPhen-2 0.41
- SIFT 0.08
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11; Familial isolated)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-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)