M234I (p.Met234Ile) variant of MFN2 (Mitofusin-2)
M234I (p.Met234Ile) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth disease type 2A2. The record also includes published literature and structural context.
M234I (p.Met234Ile) variant details
- p.Met234Ile
- rs2523035483
- ClinGen CA338438593
- ClinVar RCV003887820
- Likely pathogenic
- Charcot-Marie-Tooth disease type 2A2
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease type 2A2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)