A28P (p.Ala28Pro) variant of HBB (Hemoglobin subunit beta)
A28P (p.Ala28Pro) 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 0.99 / 1. The record also includes structural context.
A28P (p.Ala28Pro) variant details
- p.Ala28Pro
- ExAC rs35424040
- TOPMed rs35424040
- gnomAD rs35424040
- Pathogenic
- in Grange-blanche
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- ESM-1b 1.00
- AlphaMissense 0.98
- EBI: Pathogenic (in Grange-blanche)
- UniProt: Pathogenic (in Grange-blanche)
- Structural context available