L43L (p.Leu43Leu) variant of SLC6A19 (Q695T7)
L43L (p.Leu43Leu) in SLC6A19 (Q695T7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- rs748780849
- gnomAD 5-1201779-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 6.60
- Population evidence available
- Structural context available
- Literature evidence available