L18L (p.Leu18Leu) variant of IDUA (Alpha-L-iduronidase)
L18L (p.Leu18Leu) in IDUA (Alpha-L-iduronidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs2153015176
- gnomAD 4-987136-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 9.28
- Most common in the South Asian population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available