G41D (p.Gly41Asp) variant of MFN2 (Mitofusin-2)
G41D (p.Gly41Asp) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
G41D (p.Gly41Asp) variant details
- p.Gly41Asp
- rs2100802868
- ClinGen CA338459742
- ClinVar RCV001912540
- Ensembl rs2100802868
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- AlphaMissense 0.53
- MetaLR 0.88
- MetaSVM 0.72
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.08
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)