L18R (p.Leu18Arg) variant of SLC6A19 (Q695T7)
L18R (p.Leu18Arg) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- gnomAD 5-1201703-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 17.00
- Population evidence available
- Structural context available
- Literature evidence available