A22T (p.Ala22Thr) variant of KCNJ11 (Q14654)
A22T (p.Ala22Thr) in KCNJ11 (Q14654) 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.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- TOPMed rs1953593027
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available