Q57* (p.Gln57Ter) variant of KCNJ2 (P63252)
Q57* (p.Gln57Ter) in KCNJ2 (P63252) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q57* (p.Gln57Ter) variant details
- p.Gln57Ter
- rs2509920857
- ClinGen CA400860022
- ClinVar RCV003443514
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available