A14A (p.Ala14Ala) variant of HBD (Hemoglobin subunit delta)
A14A (p.Ala14Ala) in HBD (Hemoglobin subunit delta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs746381682
- gnomAD 11-5234392-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 3.81
- Most common in the African/African-American population (allele frequency 0.001)
- Structural context available
- Literature evidence available