A54E (p.Ala54Glu) variant of HBD (Hemoglobin subunit delta)
A54E (p.Ala54Glu) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A54E (p.Ala54Glu) variant details
- p.Ala54Glu
- gnomAD 11-5233048-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 4.28
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available