W12R (p.Trp12Arg) variant of IDS (Iduronate 2-sulfatase)
W12R (p.Trp12Arg) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
W12R (p.Trp12Arg) variant details
- p.Trp12Arg
- rs1557340598
- ClinGen CA414528609
- ClinVar RCV002008110
- gnomAD rs1557340598
- Likely benign
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.54
- CADD 8.14
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Likely benign (Mucopolysaccharidosis, MPS-II)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)