D53H (p.Asp53His) variant of HBD (Hemoglobin subunit delta)
D53H (p.Asp53His) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D53H (p.Asp53His) variant details
- p.Asp53His
- gnomAD rs281864511
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.80
- ESM-1b 0.18
- AlphaMissense 0.19
- MetaLR 0.89
- MetaSVM 0.88
- CADD 19.40
- Most common in the 1KG:MXL population (allele frequency 0.024)
- Structural context available