E58K (p.Glu58Lys) variant of MFN2 (Mitofusin-2)
E58K (p.Glu58Lys) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- gnomAD 1-11989340-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.55
- MetaLR 0.93
- MetaSVM 0.98
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available