S16L (p.Ser16Leu) variant of IDUA (Alpha-L-iduronidase)
S16L (p.Ser16Leu) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S16L (p.Ser16Leu) variant details
- p.Ser16Leu
- 1000Genomes rs567921262
- gnomAD rs567921262
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 7.36
- PolyPhen-2 0.00
- SIFT 0.58
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available