E31E (p.Glu31Glu) variant of HBA1 (Hemoglobin subunit alpha)
E31E (p.Glu31Glu) in HBA1 (Hemoglobin subunit alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E31E (p.Glu31Glu) variant details
- p.Glu31Glu
- rs1211328339
- gnomAD 16-173005-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 12.30
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available