T105M (p.Thr105Met) variant of MFN2 (Mitofusin-2)
T105M (p.Thr105Met) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neuropathy, hereditary motor and sensory, type 6A; Cerebellar ataxia; Charcot-Ma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
T105M (p.Thr105Met) variant details
- p.Thr105Met
- rs863224069
- ClinGen CA279096
- ClinVar RCV000201133
- ClinVar RCV000462918
- Pathogenic/Likely pathogenic
- Neuropathy, hereditary motor and sensory, type 6A; Cerebellar ataxia; Charcot-Ma
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic/Likely pathogenic (Neuropathy, hereditary motor and sensory, type 6A; Cerebellar at)
- 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)