V20L (p.Val20Leu) variant of IDS (Iduronate 2-sulfatase)
V20L (p.Val20Leu) 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; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- rs11549010
- ClinGen CA10537755
- ClinVar RCV002995901
- ClinVar RCV002995902
- Conflicting interpretations
- Inborn genetic diseases; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.29
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Mucopolysaccharidosis, MPS-II)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00013)
- 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)