R280P (p.Arg280Pro) variant of MFN2 (Mitofusin-2)
R280P (p.Arg280Pro) 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 type 2A2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R280P (p.Arg280Pro) variant details
- p.Arg280Pro
- rs28940294
- ClinGen CA338441499
- ClinVar RCV000986245
- ExAC rs28940294
- Likely pathogenic
- Charcot-Marie-Tooth disease type 2A2
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease type 2A2)
- EBI: Pathogenic (in CMT2A2A)
- UniProt: Pathogenic (in CMT2A2A)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)