D20E (p.Asp20Glu) variant of KCNJ11 (Q14654)
D20E (p.Asp20Glu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The record also includes structural context.
D20E (p.Asp20Glu) variant details
- p.Asp20Glu
- TOPMed rs1953593177
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Structural context available