E8Q (p.Glu8Gln) variant of HBD (Hemoglobin subunit delta)
E8Q (p.Glu8Gln) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E8Q (p.Glu8Gln) variant details
- p.Glu8Gln
- gnomAD 11-5234412-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.67
- ESM-1b 0.29
- AlphaMissense 0.77
- MetaLR 0.85
- MetaSVM 0.91
- CADD 23.60
- Most common in the African/African-American population (allele frequency 0.00046)
- Structural context available
- Literature evidence available