R7* (p.Arg7Ter) variant of MFN2 (Mitofusin-2)
R7* (p.Arg7Ter) in MFN2 (Mitofusin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R7* (p.Arg7Ter) variant details
- p.Arg7Ter
- rs1557515779
- ClinGen CA338459151
- ClinVar RCV000986240
- ClinVar RCV005056713
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)