E29* (p.Glu29Ter) variant of DSP (Desmoplakin)
E29* (p.Glu29Ter) in DSP (Desmoplakin) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E29* (p.Glu29Ter) variant details
- p.Glu29Ter
- rs1320349488
- ClinGen CA362675738
- ClinVar RCV001385662
- TOPMed rs1320349488
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)