H165Y (p.His165Tyr) variant of MFN2 (Mitofusin-2)
H165Y (p.His165Tyr) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease type 2; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
H165Y (p.His165Tyr) variant details
- p.His165Tyr
- rs119103262
- ClinGen CA338436254
- ClinVar RCV000506106
- ClinVar RCV000789411
- Pathogenic
- Charcot-Marie-Tooth disease type 2; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 0.67
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2; not specified)
- EBI: Pathogenic (in CMT2A2A)
- UniProt: Pathogenic (in CMT2A2A)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)