L11I (p.Leu11Ile) variant of IDS (Iduronate 2-sulfatase)
L11I (p.Leu11Ile) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L11I (p.Leu11Ile) variant details
- p.Leu11Ile
- gnomAD rs1557340600
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.24
- CADD 8.15
- PolyPhen-2 0.03
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 9.3e-05)
- Structural context available