G57R (p.Gly57Arg) variant of SLC25A14 (O95258)
G57R (p.Gly57Arg) 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.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- gnomAD X-130345275-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.60
- MetaSVM 0.16
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available