A90E (p.Ala90Glu) variant of SLC25A14 (O95258)
A90E (p.Ala90Glu) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A90E (p.Ala90Glu) variant details
- p.Ala90Glu
- gnomAD X-130346643-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.73
- MetaSVM 0.65
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available