V244L (p.Val244Leu) variant of MFN2 (Mitofusin-2)
V244L (p.Val244Leu) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease type 2A2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
V244L (p.Val244Leu) variant details
- p.Val244Leu
- rs879253777
- ClinGen CA10584070
- ClinVar RCV000235088
- Ensembl rs879253777
- Pathogenic
- Charcot-Marie-Tooth disease type 2A2
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 0.81
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2A2)
- EBI: Pathogenic (in CMT2A2A)
- UniProt: Pathogenic (in CMT2A2A)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)