P29L (p.Pro29Leu) variant of IDUA (Alpha-L-iduronidase)
P29L (p.Pro29Leu) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 18.60
- PolyPhen-2 0.20
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available