D53E (p.Asp53Glu) variant of HBD (Hemoglobin subunit delta)
D53E (p.Asp53Glu) 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 and structural context.
D53E (p.Asp53Glu) variant details
- p.Asp53Glu
- ExAC rs757106601
- gnomAD rs757106601
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.63
- MetaSVM -0.32
- CADD 15.60
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available