P473S (p.Pro473Ser) variant of IDS (Iduronate 2-sulfatase)
P473S (p.Pro473Ser) 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 not provided; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P473S (p.Pro473Ser) variant details
- p.Pro473Ser
- rs2123994315
- ClinGen CA414518143
- ClinVar RCV001545184
- ClinVar RCV001824993
- Uncertain significance
- not provided; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.76
- CADD 24.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Mucopolysaccharidosis, MPS-II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)