S18R (p.Ser18Arg) variant of IDS (Iduronate 2-sulfatase)
S18R (p.Ser18Arg) 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 0.43 / 1. The record also includes population frequency data and structural context.
S18R (p.Ser18Arg) variant details
- p.Ser18Arg
- ExAC rs782607292
- TOPMed rs782607292
- gnomAD rs782607292
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.57
- CADD 8.79
- PolyPhen-2 0.01
- SIFT 0.30
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available