L31M (p.Leu31Met) variant of IDUA (Alpha-L-iduronidase)
L31M (p.Leu31Met) in IDUA (Alpha-L-iduronidase) is a missense 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.
L31M (p.Leu31Met) variant details
- p.Leu31Met
- gnomAD 4-987175-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 15.60
- PolyPhen-2 0.31
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available