L724P (p.Leu724Pro) variant of MFN2 (Mitofusin-2)
L724P (p.Leu724Pro) 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 type 2A2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
L724P (p.Leu724Pro) variant details
- p.Leu724Pro
- rs1557537346
- ClinGen CA338453293
- ClinVar RCV000695484
- ClinVar RCV000789361
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2A2
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.76
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/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)