W75C (p.Trp75Cys) variant of SLC4A1 (Band 3 anion transport protein)
W75C (p.Trp75Cys) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
W75C (p.Trp75Cys) variant details
- p.Trp75Cys
- TOPMed rs2047436874
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available