P25S (p.Pro25Ser) variant of IDUA (Alpha-L-iduronidase)
P25S (p.Pro25Ser) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- rs775731864
- ClinGen CA2801109
- ClinVar RCV001316608
- ExAC rs775731864
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 6.53
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)