P52T (p.Pro52Thr) variant of CLCN1 (Chloride channel protein 1)
P52T (p.Pro52Thr) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P52T (p.Pro52Thr) variant details
- p.Pro52Thr
- TOPMed rs1802292476
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available