V69F (p.Val69Phe) variant of MFN2 (Mitofusin-2)
V69F (p.Val69Phe) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease type 2A2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
V69F (p.Val69Phe) variant details
- p.Val69Phe
- rs28940296
- ClinGen CA252157
- ClinVar RCV000002361
- UniProt VAR 018607
- Pathogenic
- Charcot-Marie-Tooth disease type 2A2
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- AlphaMissense 0.08
- MetaLR 0.89
- MetaSVM 0.83
- PolyPhen-2 0.08
- SIFT 0.97
- EVE 0.10
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2A2)
- EBI: Pathogenic (in CMT2A2A)
- UniProt: Pathogenic (in CMT2A2A)
- Structural context available
- Cited in: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. (PMID 15064763)
- Cited in: Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. (PMID 15136675)