R259L (p.Arg259Leu) variant of MFN2 (Mitofusin-2)
R259L (p.Arg259Leu) 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 Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R259L (p.Arg259Leu) variant details
- p.Arg259Leu
- rs755065651
- ClinGen CA338439249
- ClinVar RCV000789362
- ClinVar RCV000796767
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)