E65* (p.Glu65Ter) variant of MFN2 (Mitofusin-2)
E65* (p.Glu65Ter) in MFN2 (Mitofusin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
E65* (p.Glu65Ter) variant details
- p.Glu65Ter
- rs1415276772
- ClinGen CA338461581
- cosmic curated COSV52425
- ClinVar RCV000790046
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.727
- AlphaMissense 0.11
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.88
- SIFT 0.05
- MutPred 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)