E31del (p.Glu31del) variant of HBA1 (Hemoglobin subunit alpha)
E31del (p.Glu31del) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E31del (p.Glu31del) variant details
- rs281864560
- gnomAD 16-173001-TGGA-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 21.30
- Population evidence available
- Structural context available
- Literature evidence available