L10Q (p.Leu10Gln) variant of IDUA (Alpha-L-iduronidase)
L10Q (p.Leu10Gln) 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.
L10Q (p.Leu10Gln) variant details
- p.Leu10Gln
- gnomAD 4-987113-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0999
- CADD 6.68
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available