R94Q (p.Arg94Gln) variant of MFN2 (Mitofusin-2)
R94Q (p.Arg94Gln) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neuropathy, hereditary motor and sensory, type 6A; Charcot-Marie-Tooth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R94Q (p.Arg94Gln) variant details
- p.Arg94Gln
- rs28940291
- ClinGen CA252142
- ClinVar RCV000002356
- ClinVar RCV000286431
- Pathogenic
- Neuropathy, hereditary motor and sensory, type 6A; Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Neuropathy, hereditary motor and sensory, type 6A; Charcot-Marie)
- EBI: Pathogenic (in CMT2A2A, CMT2A2B and HMSN6A)
- UniProt: Pathogenic (in CMT2A2A, CMT2A2B and HMSN6A)
- Structural context available
- Cited in: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. (PMID 15064763)
- Cited in: Phenotypic spectrum of MFN2 mutations in the Spanish population. (PMID 19889647)