R476G (p.Arg476Gly) variant of MFN2 (Mitofusin-2)
R476G (p.Arg476Gly) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Charcot-Mar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
R476G (p.Arg476Gly) variant details
- p.Arg476Gly
- rs1266361856
- ClinGen CA338446686
- ClinVar RCV000626228
- gnomAD rs1266361856
- Likely pathogenic
- Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Charcot-Mar
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- AlphaMissense 0.35
- MetaLR 0.60
- MetaSVM -0.02
- PolyPhen-2 0.02
- SIFT 0.01
- EVE 0.26
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)