P6S (p.Pro6Ser) variant of IDUA (Alpha-L-iduronidase)
P6S (p.Pro6Ser) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- gnomAD 4-987100-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0852
- CADD 4.25
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available