S16W (p.Ser16Trp) variant of IDUA (Alpha-L-iduronidase)
S16W (p.Ser16Trp) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S16W (p.Ser16Trp) variant details
- p.Ser16Trp
- gnomAD 4-987131-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 11.90
- PolyPhen-2 0.28
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 4e-05)
- Structural context available
- Literature evidence available