D22G (p.Asp22Gly) variant of HBD (Hemoglobin subunit delta)
D22G (p.Asp22Gly) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D22G (p.Asp22Gly) variant details
- p.Asp22Gly
- gnomAD 11-5234369-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.57
- ESM-1b 0.04
- AlphaMissense 0.18
- MetaLR 0.56
- MetaSVM -0.46
- CADD 9.78
- Population evidence available
- Structural context available
- Literature evidence available