M33R (p.Met33Arg) variant of HBA1 (Hemoglobin subunit alpha)
M33R (p.Met33Arg) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; alpha Thalassemia. The record also includes population frequency data and structural context.
M33R (p.Met33Arg) variant details
- p.Met33Arg
- TOPMed rs281864566
- gnomAD rs281864566
- Conflicting interpretations
- not specified; alpha Thalassemia
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not specified; alpha Thalassemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available