I88T (p.Ile88Thr) variant of MFN2 (Mitofusin-2)
I88T (p.Ile88Thr) 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 not provided; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
I88T (p.Ile88Thr) variant details
- p.Ile88Thr
- rs1638739035
- ClinGen CA338462082
- ClinVar RCV001288131
- ClinVar RCV001381190
- Pathogenic/Likely pathogenic
- not provided; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic/Likely pathogenic (not provided; Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)