E27K (p.Glu27Lys) variant of HBD (Hemoglobin subunit delta)
E27K (p.Glu27Lys) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- Ensembl rs2133596626
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- ESM-1b 1.00
- AlphaMissense 0.70
- Structural context available