C8R (p.Cys8Arg) variant of MFN2 (Mitofusin-2)
C8R (p.Cys8Arg) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
C8R (p.Cys8Arg) variant details
- p.Cys8Arg
- rs1342700068
- ClinGen CA338459162
- ClinVar RCV000653895
- gnomAD rs1342700068
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.47
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)