S633L (p.Ser633Leu) variant of IDUA (Alpha-L-iduronidase)
S633L (p.Ser633Leu) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S633L (p.Ser633Leu) variant details
- p.Ser633Leu
- rs886043347
- ClinGen CA355966010
- NCI-TCGA Cosmic COSV5610
- cosmic curated COSV56102
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.84
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)