C43F (p.Cys43Phe) variant of KCNJ2 (P63252)
C43F (p.Cys43Phe) in KCNJ2 (P63252) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions and structural context.
C43F (p.Cys43Phe) variant details
- p.Cys43Phe
- ExAC rs774424161
- TOPMed rs774424161
- gnomAD rs774424161
- Benign
- Missense
- MetaLR 0.08
- MetaSVM -1.08
- SIFT 0.63
- EBI: Benign
- UniProt: Benign
- Structural context available