E8* (p.Glu8Ter) variant of HBD (Hemoglobin subunit delta)
E8* (p.Glu8Ter) in HBD (Hemoglobin subunit delta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E8* (p.Glu8Ter) variant details
- p.Glu8Ter
- TOPMed rs1847715204
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available