I11L (p.Ile11Leu) variant of MFN2 (Mitofusin-2)
I11L (p.Ile11Leu) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I11L (p.Ile11Leu) variant details
- p.Ile11Leu
- gnomAD 1-11989199-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.42
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available