L14L (p.Leu14Leu) variant of IDUA (Alpha-L-iduronidase)
L14L (p.Leu14Leu) in IDUA (Alpha-L-iduronidase) 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.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- gnomAD 4-987124-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 7.96
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available
- Literature evidence available