R5W (p.Arg5Trp) variant of IDS (Iduronate 2-sulfatase)
R5W (p.Arg5Trp) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- rs141900718
- ClinGen CA10537765
- ClinVar RCV002175566
- ESP rs141900718
- Benign
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.46
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Benign (Mucopolysaccharidosis, MPS-II)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00017)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)