S16A (p.Ser16Ala) variant of IDUA (Alpha-L-iduronidase)
S16A (p.Ser16Ala) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S16A (p.Ser16Ala) variant details
- p.Ser16Ala
- gnomAD 4-987130-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 4.31
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available