R32T (p.Arg32Thr) variant of HBA1 (Hemoglobin subunit alpha)
R32T (p.Arg32Thr) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in Prato. The record also includes structural context.
R32T (p.Arg32Thr) variant details
- p.Arg32Thr
- ExAC rs281864580
- gnomAD rs281864580
- Likely pathogenic
- in Prato
- Missense
- EBI: Likely pathogenic (in Prato)
- UniProt: Likely pathogenic (in Prato)
- Structural context available