L17V (p.Leu17Val) variant of IDS (Iduronate 2-sulfatase)
L17V (p.Leu17Val) 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 0.29 / 1. The record also includes population frequency data and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- ExAC rs781834400
- TOPMed rs781834400
- gnomAD rs781834400
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.35
- CADD 10.10
- PolyPhen-2 0.15
- SIFT 0.33
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available