G57D (p.Gly57Asp) variant of HBD (Hemoglobin subunit delta)
G57D (p.Gly57Asp) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G57D (p.Gly57Asp) variant details
- p.Gly57Asp
- TOPMed rs1041812657
- gnomAD rs1041812657
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.79
- MetaSVM 0.41
- CADD 15.90
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available