F240L (p.Phe240Leu) variant of MFN2 (Mitofusin-2)
F240L (p.Phe240Leu) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
F240L (p.Phe240Leu) variant details
- p.Phe240Leu
- rs864622480
- ClinGen CA338438901
- ClinVar RCV000502695
- Ensembl rs864622480
- Pathogenic
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.55
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)