Q29L (p.Gln29Leu) variant of IDS (Iduronate 2-sulfatase)
Q29L (p.Gln29Leu) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q29L (p.Gln29Leu) variant details
- p.Gln29Leu
- TOPMed rs1253381041
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.33
- CADD 3.58
- PolyPhen-2 0.01
- SIFT 0.79
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available