D210G (p.Asp210Gly) variant of MFN2 (Mitofusin-2)
D210G (p.Asp210Gly) 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; Neuropathy, hereditary motor and sensory, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
D210G (p.Asp210Gly) variant details
- p.Asp210Gly
- rs1639043704
- ClinGen CA338437864
- ClinVar RCV001036451
- ClinVar RCV004789371
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; Neuropathy, hereditary motor and sensory, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.95
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; Neuropathy, hereditary motor)
- 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)