A23A (p.Ala23Ala) variant of HBD (Hemoglobin subunit delta)
A23A (p.Ala23Ala) in HBD (Hemoglobin subunit delta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A23A (p.Ala23Ala) variant details
- p.Ala23Ala
- rs1227500842
- gnomAD 11-5234365-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available