R8L (p.Arg8Leu) variant of IDS (Iduronate 2-sulfatase)
R8L (p.Arg8Leu) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- rs782621858
- ClinGen CA10537762
- ClinVar RCV000934628
- ClinVar RCV002427322
- Benign/Likely benign
- Inborn genetic diseases; not provided; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.29
- CADD 6.88
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided; Mucopolysaccharidosis, MP)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0042)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)