R259C (p.Arg259Cys) variant of MFN2 (Mitofusin-2)
R259C (p.Arg259Cys) 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 Inborn genetic diseases; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth diseas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R259C (p.Arg259Cys) variant details
- p.Arg259Cys
- rs587777875
- ClinGen CA270652
- cosmic curated COSV52426
- ClinVar RCV000143799
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth diseas
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.95
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 1.06
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Charcot-Marie-Tooth disease; Charcot-Ma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)