S349N (p.Ser349Asn) variant of IDS (Iduronate 2-sulfatase)
S349N (p.Ser349Asn) 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; not provided; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S349N (p.Ser349Asn) variant details
- p.Ser349Asn
- rs138918423
- ClinGen CA16621218
- ClinVar RCV000478817
- ClinVar RCV003621539
- Conflicting interpretations
- Inborn genetic diseases; not provided; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.72
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.47
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Mucopolysaccharidosis, MP)
- EBI: Likely benign (in MPS2)
- UniProt: Likely benign (in MPS2)
- Population evidence available
- 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)