Y43T (p.Tyr43Thr) variant of HBA1 (Hemoglobin subunit alpha)
Y43T (p.Tyr43Thr) 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.
Y43T (p.Tyr43Thr) variant details
- p.Tyr43Thr
- gnomAD 16-173155-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 29.70
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- Literature evidence available