Y43* (p.Tyr43Ter) variant of HBA1 (Hemoglobin subunit alpha)
Y43* (p.Tyr43Ter) in HBA1 (Hemoglobin subunit alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Y43* (p.Tyr43Ter) variant details
- p.Tyr43Ter
- gnomAD 16-173158-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 36.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available
- Literature evidence available