A79G (p.Ala79Gly) variant of IDS (Iduronate 2-sulfatase)
A79G (p.Ala79Gly) 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 Mucopolysaccharidosis, MPS-II; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A79G (p.Ala79Gly) variant details
- p.Ala79Gly
- rs368513342
- ClinGen CA10537720
- ClinVar RCV001514532
- ClinVar RCV004037927
- Benign/Likely benign
- Mucopolysaccharidosis, MPS-II; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.87
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Benign/Likely benign (Mucopolysaccharidosis, MPS-II; Inborn genetic diseases)
- EBI: Benign (in MPS2)
- UniProt: Benign (in MPS2)
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- 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)