W12* (p.Trp12Ter) variant of IDS (Iduronate 2-sulfatase)
W12* (p.Trp12Ter) in IDS (Iduronate 2-sulfatase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
W12* (p.Trp12Ter) variant details
- p.Trp12Ter
- rs2520910742
- ClinGen CA414528590
- ClinVar RCV003509092
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)