I213N (p.Ile213Asn) variant of MFN2 (Mitofusin-2)
I213N (p.Ile213Asn) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2A2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
I213N (p.Ile213Asn) variant details
- p.Ile213Asn
- rs1557524703
- ClinGen CA338437954
- ClinVar RCV000986244
- ClinVar RCV006464893
- Likely pathogenic
- Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2A2
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 0.80
- PolyPhen-2 0.04
- SIFT 0.02
- EVE 0.83
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease)
- 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)