Q45R (p.Gln45Arg) variant of MFN2 (Mitofusin-2)
Q45R (p.Gln45Arg) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth disease type 2A2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
Q45R (p.Gln45Arg) variant details
- p.Gln45Arg
- rs1569802992
- ClinGen CA338459844
- ClinVar RCV000789372
- Ensembl rs1569802992
- Likely pathogenic
- Charcot-Marie-Tooth disease type 2A2
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 0.49
- MetaLR 0.37
- MetaSVM -0.38
- PolyPhen-2 0.26
- SIFT 0.00
- EVE 0.31
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease type 2A2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)