W10C (p.Trp10Cys) variant of DSC2 (Desmocollin-2)
W10C (p.Trp10Cys) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
W10C (p.Trp10Cys) variant details
- p.Trp10Cys
- rs1555641322
- ClinGen CA402115279
- ClinVar RCV000621556
- ClinVar RCV001190259
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.08
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right v)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- 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)