G48D (p.Gly48Asp) variant of SLC25A14 (O95258)
G48D (p.Gly48Asp) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G48D (p.Gly48Asp) variant details
- p.Gly48Asp
- gnomAD X-130345249-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.75
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available