H21T (p.His21Thr) variant of HBA1 (Hemoglobin subunit alpha)
H21T (p.His21Thr) in HBA1 (Hemoglobin subunit alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H21T (p.His21Thr) variant details
- p.His21Thr
- rs886041399
- gnomAD 16-172971-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 16.30
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available