A79V (p.Ala79Val) variant of IDS (Iduronate 2-sulfatase)
A79V (p.Ala79Val) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis, MPS-II; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A79V (p.Ala79Val) variant details
- p.Ala79Val
- rs368513342
- ClinGen CA10537721
- ClinVar RCV001825437
- ClinVar RCV002313580
- Uncertain significance
- Mucopolysaccharidosis, MPS-II; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.69
- CADD 20.20
- PolyPhen-2 0.34
- SIFT 0.26
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II; Inborn genetic diseases)
- EBI: Benign (in MPS2)
- UniProt: Benign (in MPS2)
- Most common in the South Asian population (allele frequency 5.6e-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)