M234K (p.Met234Lys) variant of MFN2 (Mitofusin-2)
M234K (p.Met234Lys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
M234K (p.Met234Lys) variant details
- p.Met234Lys
- rs1639047697
- ClinGen CA338438589
- ClinVar RCV001256669
- Ensembl rs1639047697
- Likely pathogenic
- Charcot-Marie-Tooth disease type 2A2
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 0.98
- MetaLR 0.81
- MetaSVM 0.55
- PolyPhen-2 0.01
- SIFT 0.00
- EVE 0.67
- 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)