L10R (p.Leu10Arg) variant of IDUA (Alpha-L-iduronidase)
L10R (p.Leu10Arg) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L10R (p.Leu10Arg) variant details
- p.Leu10Arg
- gnomAD 4-987113-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 7.02
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available