M376V (p.Met376Val) variant of MFN2 (Mitofusin-2)
M376V (p.Met376Val) 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 2A2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
M376V (p.Met376Val) variant details
- p.Met376Val
- rs863224967
- ClinGen CA279087
- ClinVar RCV000793093
- ClinVar RCV001542541
- Pathogenic/Likely pathogenic
- not provided; Charcot-Marie-Tooth disease type 2A2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- AlphaMissense 0.31
- MetaLR 0.71
- MetaSVM 0.11
- PolyPhen-2 0.00
- SIFT 0.55
- EVE 0.19
- ClinVar: Pathogenic/Likely pathogenic (not provided; Charcot-Marie-Tooth disease type 2A2; Inborn genet)
- EBI: Pathogenic (in CMT2A2A)
- UniProt: Pathogenic (in CMT2A2A)
- Structural context available
- Cited in: Phenotypic spectrum of MFN2 mutations in the Spanish population. (PMID 19889647)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)