T40Y (p.Thr40Tyr) variant of HBA1 (Hemoglobin subunit alpha)
T40Y (p.Thr40Tyr) in HBA1 (Hemoglobin subunit alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T40Y (p.Thr40Tyr) variant details
- p.Thr40Tyr
- gnomAD 16-173146-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 29.40
- Most common in the Middle Eastern population (allele frequency 0.00039)
- Structural context available
- Literature evidence available