G57A (p.Gly57Ala) variant of HBD (Hemoglobin subunit delta)
G57A (p.Gly57Ala) 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 structural context.
G57A (p.Gly57Ala) variant details
- p.Gly57Ala
- cosmic curated COSV53081
- TOPMed rs1041812657
- gnomAD rs1041812657
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.55
- ESM-1b 0.71
- AlphaMissense 0.10
- MetaLR 0.76
- MetaSVM 0.22
- SIFT 0.05
- Structural context available