A28T (p.Ala28Thr) variant of HBD (Hemoglobin subunit delta)
A28T (p.Ala28Thr) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Yialousa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- 1000Genomes rs35152987
- ESP rs35152987
- ExAC rs35152987
- TOPMed rs35152987
- Pathogenic
- in Yialousa
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.59
- ESM-1b 0.25
- AlphaMissense 0.20
- MetaLR 0.46
- MetaSVM -0.51
- CADD 9.29
- EBI: Pathogenic (in Yialousa)
- UniProt: Pathogenic (in Yialousa)
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available