L18L (p.Leu18Leu) variant of SLC6A19 (Q695T7)
L18L (p.Leu18Leu) in SLC6A19 (Q695T7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- gnomAD 5-1201702-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 5.99
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available