W740S (p.Trp740Ser) variant of MFN2 (Mitofusin-2)
W740S (p.Trp740Ser) 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 Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
W740S (p.Trp740Ser) variant details
- p.Trp740Ser
- rs28940292
- ClinGen CA252145
- ClinVar RCV000002357
- ClinVar RCV000197403
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autos
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- AlphaMissense 0.97
- MetaLR 0.82
- MetaSVM 0.58
- PolyPhen-2 0.35
- SIFT 0.11
- EVE 0.21
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth diseas)
- EBI: Pathogenic (in CMT2A2A)
- UniProt: Pathogenic (in CMT2A2A)
- Structural context available
- Cited in: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. (PMID 15064763)
- Cited in: Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence… (PMID 8406488)