L146F (p.Leu146Phe) variant of MFN2 (Mitofusin-2)
L146F (p.Leu146Phe) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
L146F (p.Leu146Phe) variant details
- p.Leu146Phe
- rs863224969
- ClinGen CA279064
- ClinVar RCV000201006
- ClinVar RCV000237022
- Pathogenic/Likely pathogenic
- not provided; Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 0.40
- MetaLR 0.93
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (not provided; Charcot-Marie-Tooth disease type 2; Charcot-Marie-)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)