P358T (p.Pro358Thr) variant of IDS (Iduronate 2-sulfatase)
P358T (p.Pro358Thr) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis, MPS-II; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P358T (p.Pro358Thr) variant details
- p.Pro358Thr
- rs1557338141
- ClinGen CA414518894
- ClinVar RCV002726658
- ClinVar RCV004587376
- Uncertain significance
- Mucopolysaccharidosis, MPS-II; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.97
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II; not specified)
- EBI: Variant of uncertain significance (in MPS2)
- UniProt: Uncertain significance (in MPS2)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)