Q29K (p.Gln29Lys) variant of IDS (Iduronate 2-sulfatase)
Q29K (p.Gln29Lys) in IDS (Iduronate 2-sulfatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q29K (p.Gln29Lys) variant details
- p.Gln29Lys
- gnomAD rs1557340571
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.41
- CADD 8.85
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available