I50M (p.Ile50Met) variant of MFN2 (Mitofusin-2)
I50M (p.Ile50Met) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I50M (p.Ile50Met) variant details
- p.Ile50Met
- gnomAD 1-11989318-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.65
- MetaLR 0.94
- MetaSVM 0.98
- CADD 21.40
- PolyPhen-2 0.44
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available