I255M (p.Ile255Met) variant of MFN2 (Mitofusin-2)
I255M (p.Ile255Met) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I255M (p.Ile255Met) variant details
- p.Ile255Met
- rs376327713
- ClinGen CA598917
- ClinVar RCV001056047
- ClinVar RCV004773268
- Conflicting interpretations
- not provided; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.82
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)