R94G (p.Arg94Gly) variant of MFN2 (Mitofusin-2)
R94G (p.Arg94Gly) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R94G (p.Arg94Gly) variant details
- p.Arg94Gly
- rs119103263
- ClinGen CA338462161
- ClinVar RCV000789702
- ClinVar RCV001091326
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Pathogenic (in HMSN6A and CMT2A2A)
- UniProt: Pathogenic (in HMSN6A and CMT2A2A)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)