N40D (p.Asn40Asp) variant of MFN2 (Mitofusin-2)
N40D (p.Asn40Asp) 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 0.71 / 1. The record also includes published literature and structural context.
N40D (p.Asn40Asp) variant details
- p.Asn40Asp
- rs1026123951
- ClinGen CA338459722
- ClinVar RCV001302489
- Ensembl rs1026123951
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- AlphaMissense 0.25
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.31
- 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)