I39M (p.Ile39Met) variant of MFN2 (Mitofusin-2)
I39M (p.Ile39Met) 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 0.68 / 1. The record also includes population frequency data and structural context.
I39M (p.Ile39Met) variant details
- p.Ile39Met
- TOPMed rs1288073943
- gnomAD rs1288073943
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.81
- CADD 23.80
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available