A28A (p.Ala28Ala) variant of HBB (Hemoglobin subunit beta)
A28A (p.Ala28Ala) in HBB (Hemoglobin subunit beta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A28A (p.Ala28Ala) variant details
- p.Ala28Ala
- rs748296717
- gnomAD 11-5226938-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 11.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available