L10L (p.Leu10Leu) variant of IDUA (Alpha-L-iduronidase)
L10L (p.Leu10Leu) in IDUA (Alpha-L-iduronidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L10L (p.Leu10Leu) variant details
- p.Leu10Leu
- rs1169195503
- gnomAD 4-987112-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.494
- CADD 8.12
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available