A6T (p.Ala6Thr) variant of HBA1 (Hemoglobin subunit alpha)
A6T (p.Ala6Thr) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD rs34751764
- Uncertain significance
- not provided
- Missense
- MetaLR 0.63
- MetaSVM -0.30
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in Karachi)
- UniProt: Uncertain significance (in Karachi)
- Structural context available