V273M (p.Val273Met) variant of MFN2 (Mitofusin-2)
V273M (p.Val273Met) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
V273M (p.Val273Met) variant details
- p.Val273Met
- rs1639165942
- ClinGen CA338441376
- ClinVar RCV001327215
- ClinVar RCV005911059
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.91
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.03
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)