T54I (p.Thr54Ile) variant of SLC4A1 (Band 3 anion transport protein)
T54I (p.Thr54Ile) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER. The record also includes structural context.
T54I (p.Thr54Ile) variant details
- p.Thr54Ile
- Ensembl rs2144622739
- Uncertain significance
- Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER
- Missense
- ClinVar: Uncertain significance (Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOO)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available