K23E (p.Lys23Glu) variant of KCNJ5 (P48544)
K23E (p.Lys23Glu) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
K23E (p.Lys23Glu) variant details
- p.Lys23Glu
- rs2497721988
- ClinGen CA383245559
- ClinVar RCV002369469
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available