S93N (p.Ser93Asn) variant of DSC2 (Desmocollin-2)
S93N (p.Ser93Asn) 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; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
S93N (p.Ser93Asn) variant details
- p.Ser93Asn
- rs1987623727
- ClinGen CA402114730
- NCI-TCGA Cosmic COSV9919
- cosmic curated COSV99199
- Uncertain significance
- Familial isolated arrhythmogenic right ventricular dysplasia; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- AlphaMissense 0.07
- MetaLR 0.08
- MetaSVM -1.01
- PolyPhen-2 0.01
- SIFT 0.10
- EVE 0.16
- ClinVar: Uncertain significance (Familial isolated arrhythmogenic right ventricular dysplasia; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available