L49R (p.Leu49Arg) variant of SLC25A14 (O95258)
L49R (p.Leu49Arg) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L49R (p.Leu49Arg) variant details
- p.Leu49Arg
- gnomAD X-130345252-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.70
- MetaSVM 0.54
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available