R46S (p.Arg46Ser) variant of KCNJ2 (P63252)
R46S (p.Arg46Ser) in KCNJ2 (P63252) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
R46S (p.Arg46Ser) variant details
- p.Arg46Ser
- NCI-TCGA Cosmic COSV5466
- TOPMed rs2074385043
- Uncertain significance
- Missense
- MetaLR 0.41
- MetaSVM -0.35
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available