H165R (p.His165Arg) variant of MFN2 (Mitofusin-2)
H165R (p.His165Arg) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
H165R (p.His165Arg) variant details
- p.His165Arg
- rs863224970
- ClinGen CA279075
- ClinVar RCV000201063
- ClinVar RCV000235729
- Pathogenic
- not provided; Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.91
- MetaLR 0.91
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (not provided; Charcot-Marie-Tooth disease type 2; Charcot-Marie-)
- EBI: Pathogenic (in CMT2A2A)
- UniProt: Pathogenic (in CMT2A2A)
- Structural context available
- Cited in: Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. (PMID 16835246)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)