L11F (p.Leu11Phe) variant of IDS (Iduronate 2-sulfatase)
L11F (p.Leu11Phe) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- rs1557340600
- ClinGen CA414528622
- ClinVar RCV003832530
- ClinVar RCV005856576
- Conflicting interpretations
- Inborn genetic diseases; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.30
- CADD 8.41
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Mucopolysaccharidosis, MPS-II)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 2.2e-05)
- 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)