L72R (p.Leu72Arg) variant of IDS (Iduronate 2-sulfatase)
L72R (p.Leu72Arg) in IDS (Iduronate 2-sulfatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L72R (p.Leu72Arg) variant details
- p.Leu72Arg
- gnomAD rs2089503838
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.67
- CADD 22.80
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available