A28G (p.Ala28Gly) variant of HBB (Hemoglobin subunit beta)
A28G (p.Ala28Gly) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Grange-blanche. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
A28G (p.Ala28Gly) variant details
- p.Ala28Gly
- ExAC rs33954632
- TOPMed rs33954632
- gnomAD rs33954632
- Pathogenic
- in Grange-blanche
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.87
- MetaSVM 0.96
- CADD 26.80
- EBI: Pathogenic (in Grange-blanche)
- UniProt: Pathogenic (in Grange-blanche)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available