S67N (p.Ser67Asn) variant of DSC2 (Desmocollin-2)
S67N (p.Ser67Asn) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial isolated arrhythmogenic right ventricular dysplasia; Arrhythmogenic rig. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S67N (p.Ser67Asn) variant details
- p.Ser67Asn
- rs374613780
- ClinGen CA034248
- cosmic curated COSV51865
- ClinVar RCV004013409
- Uncertain significance
- Familial isolated arrhythmogenic right ventricular dysplasia; Arrhythmogenic rig
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.14
- CADD 20.40
- PolyPhen-2 0.25
- SIFT 0.07
- ClinVar: Uncertain significance (Familial isolated arrhythmogenic right ventricular dysplasia; Ar)
- 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)