E24S (p.Glu24Ser) variant of HBA1 (Hemoglobin subunit alpha)
E24S (p.Glu24Ser) in HBA1 (Hemoglobin subunit alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E24S (p.Glu24Ser) variant details
- p.Glu24Ser
- rs1270810159
- gnomAD 16-172980-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 12.20
- Most common in the African/African-American population (allele frequency 0.0002)
- Structural context available
- Literature evidence available