R67L (p.Arg67Leu) variant of SLC25A14 (O95258)
R67L (p.Arg67Leu) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R67L (p.Arg67Leu) variant details
- p.Arg67Leu
- gnomAD X-130346574-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.66
- MetaSVM 0.42
- CADD 28.00
- Population evidence available
- Structural context available
- Literature evidence available