R104W (p.Arg104Trp) variant of MFN2 (Mitofusin-2)
R104W (p.Arg104Trp) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.94 / 1. The record also includes published literature and structural context.
R104W (p.Arg104Trp) variant details
- p.Arg104Trp
- rs119103268
- ClinGen CA115475
- ClinVar RCV000002370
- ClinVar RCV000002371
- Pathogenic
- Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autos
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.97
- MetaLR 0.93
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth diseas)
- EBI: Pathogenic (in CMT2A2A and HMSN6A)
- UniProt: Pathogenic (in CMT2A2A and HMSN6A)
- Structural context available
- Cited in: Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. (PMID 18946002)
- Cited in: Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. (PMID 18425620)