L54L (p.Leu54Leu) variant of SLC6A1 (P30531)
L54L (p.Leu54Leu) in SLC6A1 (P30531) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L54L (p.Leu54Leu) variant details
- p.Leu54Leu
- rs752627902
- gnomAD 3-11017373-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 11.50
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available