A54T (p.Ala54Thr) variant of SLC25A14 (O95258)
A54T (p.Ala54Thr) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- gnomAD X-130345266-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.63
- MetaSVM 0.36
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available