P469R (p.Pro469Arg) variant of IDS (Iduronate 2-sulfatase)
P469R (p.Pro469Arg) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
P469R (p.Pro469Arg) variant details
- p.Pro469Arg
- rs2123994360
- ClinGen CA414518165
- ClinVar RCV002717601
- ClinVar RCV004596569
- Likely pathogenic
- Inborn genetic diseases; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 0.74
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Inborn genetic diseases; Mucopolysaccharidosis, MPS-II)
- EBI: Likely pathogenic (in MPS2)
- UniProt: Likely pathogenic (in MPS2)
- 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)