R280H (p.Arg280His) variant of MFN2 (Mitofusin-2)
R280H (p.Arg280His) 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 Neuropathy, hereditary motor and sensory, type 6A; Charcot-Marie-Tooth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R280H (p.Arg280His) variant details
- p.Arg280His
- rs28940294
- ClinGen CA252151
- cosmic curated COSV52420
- ClinVar RCV000002359
- Pathogenic/Likely pathogenic
- Neuropathy, hereditary motor and sensory, type 6A; Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.92
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.03
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Neuropathy, hereditary motor and sensory, type 6A; Charcot-Marie)
- EBI: Pathogenic (in CMT2A2A)
- UniProt: Pathogenic (in CMT2A2A)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. (PMID 10732809)
- Cited in: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. (PMID 15064763)