E24* (p.Glu24Ter) variant of DSG1 (Desmoglein-1)
E24* (p.Glu24Ter) in DSG1 (Desmoglein-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E24* (p.Glu24Ter) variant details
- p.Glu24Ter
- TOPMed rs1235063801
- gnomAD rs1235063801
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 43.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available