G14D (p.Gly14Asp) variant of IDS (Iduronate 2-sulfatase)
G14D (p.Gly14Asp) 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 Inborn genetic diseases; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- rs373389352
- ClinGen CA10537758
- ClinVar RCV001519863
- ClinVar RCV001826378
- Benign/Likely benign
- Inborn genetic diseases; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.56
- CADD 12.90
- PolyPhen-2 0.06
- SIFT 0.14
- ClinVar: Benign/Likely benign (Inborn genetic diseases; Mucopolysaccharidosis, MPS-II)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00055)
- 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)