E52K (p.Glu52Lys) variant of MFN2 (Mitofusin-2)
E52K (p.Glu52Lys) 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, axonal, autosomal recessive, type 2a2b. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- rs1553141017
- ClinGen CA338460007
- NCI-TCGA Cosmic COSV5242
- cosmic curated COSV52421
- Likely pathogenic
- Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 0.89
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 0.90
- SIFT 0.00
- EVE 0.36
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)