R707W (p.Arg707Trp) variant of MFN2 (Mitofusin-2)
R707W (p.Arg707Trp) 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, axonal, autosomal recessive, type 2a2b; Multiple sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R707W (p.Arg707Trp) variant details
- p.Arg707Trp
- rs119103267
- ClinGen CA252166
- cosmic curated COSV10458
- ClinVar RCV000002369
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Multiple sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.84
- CADD 27.50
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2)
- EBI: Pathogenic (in CMT2A2A, CMT2A2B and MSL)
- UniProt: Pathogenic (in CMT2A2A, CMT2A2B and MSL)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. (PMID 18458227)
- Cited in: Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. (PMID 20008656)