L107F (p.Leu107Phe) variant of SLC4A1 (Band 3 anion transport protein)
L107F (p.Leu107Phe) 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; Autosomal dominant distal renal tubular acidosi. The record also includes published literature and structural context.
L107F (p.Leu107Phe) variant details
- p.Leu107Phe
- rs2047435499
- ClinGen CA399795791
- ClinVar RCV001124757
- ClinVar RCV001124758
- Uncertain significance
- Hereditary spherocytosis type 4; Autosomal dominant distal renal tubular acidosi
- Missense
- ClinVar: Uncertain significance (Hereditary spherocytosis type 4; Autosomal dominant distal renal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)