P183S (p.Pro183Ser) variant of IDUA (Alpha-L-iduronidase)
P183S (p.Pro183Ser) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
P183S (p.Pro183Ser) variant details
- p.Pro183Ser
- rs757706461
- ClinGen CA2801989
- ClinVar RCV003131236
- ClinVar RCV006274406
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.93
- AlphaMissense 0.89
- MetaLR 0.96
- MetaSVM 1.11
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)