E8A (p.Glu8Ala) variant of HBD (Hemoglobin subunit delta)
E8A (p.Glu8Ala) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
E8A (p.Glu8Ala) variant details
- p.Glu8Ala
- Ensembl rs63751203
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- ESM-1b 1.00
- AlphaMissense 0.88
- Structural context available