W10* (p.Trp10Ter) variant of DSC2 (Desmocollin-2)
W10* (p.Trp10Ter) in DSC2 (Desmocollin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
W10* (p.Trp10Ter) variant details
- p.Trp10Ter
- rs1555641322
- ClinGen CA402115277
- ClinVar RCV001823351
- ClinVar RCV002545189
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)