P480S (p.Pro480Ser) variant of IDS (Iduronate 2-sulfatase)
P480S (p.Pro480Ser) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P480S (p.Pro480Ser) variant details
- p.Pro480Ser
- ExAC rs782107496
- gnomAD rs782107496
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.82
- CADD 25.10
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- UniProt: Uncertain significance (in MPS2)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available