E7Q (p.Glu7Gln) variant of HBD (Hemoglobin subunit delta)
E7Q (p.Glu7Gln) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- gnomAD rs281864565
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.48
- ESM-1b 0.15
- AlphaMissense 0.14
- MetaLR 0.44
- MetaSVM -0.69
- SIFT 0.10
- Structural context available