A28D (p.Ala28Asp) variant of HBD (Hemoglobin subunit delta)
A28D (p.Ala28Asp) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fetal hemoglobin quantitative trait locus 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- rs751533248
- ClinGen CA5839991
- ClinVar RCV001107108
- ExAC rs751533248
- Uncertain significance
- Fetal hemoglobin quantitative trait locus 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 0.92
- CADD 26.00
- ClinVar: Uncertain significance (Fetal hemoglobin quantitative trait locus 1)
- EBI: Variant of uncertain significance (in Yialousa)
- UniProt: Uncertain significance (in Yialousa)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available