P6L (p.Pro6Leu) variant of IDUA (Alpha-L-iduronidase)
P6L (p.Pro6Leu) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- gnomAD 4-987101-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 8.10
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available