E8D (p.Glu8Asp) variant of HBD (Hemoglobin subunit delta)
E8D (p.Glu8Asp) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- Ensembl rs281864508
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.51
- MetaLR 0.60
- MetaSVM -0.27
- CADD 17.70
- Most common in the African/African-American population (allele frequency 0.001)
- Structural context available