A54A (p.Ala54Ala) variant of HBD (Hemoglobin subunit delta)
A54A (p.Ala54Ala) in HBD (Hemoglobin subunit delta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A54A (p.Ala54Ala) variant details
- p.Ala54Ala
- gnomAD 11-5234144-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 7.89
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available
- Literature evidence available