R94W (p.Arg94Trp) variant of MFN2 (Mitofusin-2)
R94W (p.Arg94Trp) 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 0.93 / 1. The record also includes published literature and structural context.
R94W (p.Arg94Trp) variant details
- p.Arg94Trp
- rs119103263
- ClinGen CA204307
- ClinVar RCV000002364
- ClinVar RCV000190245
- Pathogenic
- Neuropathy, hereditary motor and sensory, type 6A; Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Neuropathy, hereditary motor and sensory, type 6A; Charcot-Marie)
- EBI: Pathogenic (in HMSN6A and CMT2A2A)
- UniProt: Pathogenic (in HMSN6A and CMT2A2A)
- Structural context available
- Cited in: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. (PMID 15064763)
- Cited in: Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. (PMID 16437557)