D53V (p.Asp53Val) variant of HBD (Hemoglobin subunit delta)
D53V (p.Asp53Val) 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 population frequency data, published literature, and structural context.
D53V (p.Asp53Val) variant details
- p.Asp53Val
- gnomAD 11-5234148-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.86
- MetaSVM 0.61
- CADD 21.70
- Population evidence available
- Structural context available
- Literature evidence available