T362M (p.Thr362Met) variant of MFN2 (Mitofusin-2)
T362M (p.Thr362Met) 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 Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease, axonal, autosom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T362M (p.Thr362Met) variant details
- p.Thr362Met
- rs387906991
- ClinGen CA129423
- ClinVar RCV000023716
- ClinVar RCV000240513
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease, axonal, autosom
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.83
- AlphaMissense 0.88
- MetaLR 0.92
- MetaSVM 0.97
- CADD 26.10
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease,)
- EBI: Pathogenic (in CMT2A2B and CMT2A2A)
- UniProt: Pathogenic (in CMT2A2B and CMT2A2A)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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: Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. (PMID 18458227)