F44I (p.Phe44Ile) variant of HBA1 (Hemoglobin subunit alpha)
F44I (p.Phe44Ile) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Hirosaki. The record also includes structural context.
F44I (p.Phe44Ile) variant details
- p.Phe44Ile
- Ensembl rs281864829
- Pathogenic
- in Hirosaki
- Missense
- EBI: Pathogenic (in Hirosaki)
- UniProt: Pathogenic (in Hirosaki)
- Structural context available