S16P (p.Ser16Pro) variant of IDUA (Alpha-L-iduronidase)
S16P (p.Ser16Pro) in IDUA (Alpha-L-iduronidase) is a missense change. 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.
S16P (p.Ser16Pro) variant details
- p.Ser16Pro
- gnomAD rs1277306813
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available