T39A (p.Thr39Ala) variant of HBD (Hemoglobin subunit delta)
T39A (p.Thr39Ala) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T39A (p.Thr39Ala) variant details
- p.Thr39Ala
- gnomAD 11-5234191-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.86
- ESM-1b 0.00
- AlphaMissense 0.87
- MetaLR 0.81
- MetaSVM 0.70
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available