E8del (p.Glu8del) variant of HBD (Hemoglobin subunit delta)
E8del (p.Glu8del) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E8del (p.Glu8del) variant details
- rs1486964767
- gnomAD 11-5234409-TCTC-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 15.60
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available