I11M (p.Ile11Met) variant of MFN2 (Mitofusin-2)
I11M (p.Ile11Met) in MFN2 (Mitofusin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I11M (p.Ile11Met) variant details
- p.Ile11Met
- ExAC rs756450319
- TOPMed rs756450319
- gnomAD rs756450319
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.37
- CADD 0.03
- PolyPhen-2 0.17
- SIFT 0.09
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available