K37E (p.Lys37Glu) variant of MFN2 (Mitofusin-2)
K37E (p.Lys37Glu) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
K37E (p.Lys37Glu) variant details
- p.Lys37Glu
- gnomAD 1-11989277-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.86
- CADD 26.90
- PolyPhen-2 0.54
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available