A50D (p.Ala50Asp) variant of SLC25A14 (O95258)
A50D (p.Ala50Asp) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A50D (p.Ala50Asp) variant details
- p.Ala50Asp
- gnomAD X-130345255-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 1.02
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available