L248V (p.Leu248Val) variant of MFN2 (Mitofusin-2)
L248V (p.Leu248Val) 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 2A2; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
L248V (p.Leu248Val) variant details
- p.Leu248Val
- rs1569843694
- ClinGen CA338439079
- ClinVar RCV000789703
- ClinVar RCV001248236
- Likely pathogenic
- Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.24
- MetaLR 0.93
- MetaSVM 1.02
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.14
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth diseas)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)