V112M (p.Val112Met) variant of MFN2 (Mitofusin-2)
V112M (p.Val112Met) 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 Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; Peripheral neuropat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V112M (p.Val112Met) variant details
- p.Val112Met
- rs757937208
- ClinGen CA598809
- ClinVar RCV000714526
- ClinVar RCV001836873
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; Peripheral neuropat
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.86
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; Per)
- EBI: Pathogenic (in CMT2A2B)
- UniProt: Pathogenic (in CMT2A2B)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease. (PMID 34193129)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)