R94L (p.Arg94Leu) variant of MFN2 (Mitofusin-2)
R94L (p.Arg94Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R94L (p.Arg94Leu) variant details
- p.Arg94Leu
- rs28940291
- ClinGen CA338462165
- ClinVar RCV003337861
- Likely pathogenic
- Charcot-Marie-Tooth disease type 2A2
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease type 2A2)
- EBI: Likely pathogenic (in HMSN6A and CMT2A2A)
- UniProt: Likely pathogenic (in HMSN6A and CMT2A2A)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)