S69T (p.Ser69Thr) variant of IDS (Iduronate 2-sulfatase)
S69T (p.Ser69Thr) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Mucopolysaccharidosis, MPS-II. 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.
S69T (p.Ser69Thr) variant details
- p.Ser69Thr
- gnomAD rs1557340397
- Likely benign
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.61
- CADD 22.50
- PolyPhen-2 0.17
- SIFT 0.09
- ClinVar: Likely benign (Mucopolysaccharidosis, MPS-II)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00014)
- Structural context available