E55K (p.Glu55Lys) variant of SLC25A14 (O95258)
E55K (p.Glu55Lys) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E55K (p.Glu55Lys) variant details
- p.Glu55Lys
- gnomAD X-130345269-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.43
- MetaSVM -0.05
- CADD 28.90
- Population evidence available
- Structural context available
- Literature evidence available