A54V (p.Ala54Val) variant of SLC25A14 (O95258)
A54V (p.Ala54Val) 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.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- gnomAD X-130345267-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.50
- CADD 26.50
- Population evidence available
- Structural context available
- Literature evidence available