N11S (p.Asn11Ser) variant of DSC2 (Desmocollin-2)
N11S (p.Asn11Ser) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
N11S (p.Asn11Ser) variant details
- p.Asn11Ser
- rs868333
- ClinGen CA022796
- cosmic curated COSV10723
- ClinVar RCV000039434
- Benign
- Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.15
- CADD 6.21
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (Cardiovascular phenotype; Familial isolated arrhythmogenic right)
- EBI: Benign (in dbSNP:rs868333)
- UniProt: Benign (in dbSNP:rs868333)
- Most common in the HGDP:SAN population (allele frequency 0.7)
- Structural context available
- Cited in: Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular… (PMID 20031617)
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)