A14D (p.Ala14Asp) variant of HBD (Hemoglobin subunit delta)
A14D (p.Ala14Asp) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- TOPMed rs35291639
- gnomAD rs35291639
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.35
- MetaSVM -0.75
- SIFT 0.14
- Structural context available