I49M (p.Ile49Met) variant of KCNJ11 (Q14654)
I49M (p.Ile49Met) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The record also includes structural context.
I49M (p.Ile49Met) variant details
- p.Ile49Met
- ExAC rs768117265
- TOPMed rs768117265
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available