A102D (p.Ala102Asp) variant of SLC25A14 (O95258)
A102D (p.Ala102Asp) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A102D (p.Ala102Asp) variant details
- p.Ala102Asp
- gnomAD X-130346679-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.73
- MetaSVM 0.68
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available