A220T (p.Ala220Thr) variant of MFN2 (Mitofusin-2)
A220T (p.Ala220Thr) 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 2A2; 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.
A220T (p.Ala220Thr) variant details
- p.Ala220Thr
- rs1639045345
- ClinGen CA338438158
- ClinVar RCV001051302
- ClinVar RCV002221157
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 0.94
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth diseas)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)