F43C (p.Phe43Cys) variant of MFN2 (Mitofusin-2)
F43C (p.Phe43Cys) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
F43C (p.Phe43Cys) variant details
- p.Phe43Cys
- rs2522962265
- ClinGen CA338459781
- ClinVar RCV002474426
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available