V89I (p.Val89Ile) variant of IDS (Iduronate 2-sulfatase)
V89I (p.Val89Ile) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V89I (p.Val89Ile) variant details
- p.Val89Ile
- rs1557340275
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10055
- TOPMed rs1557340275
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.49
- CADD 16.90
- PolyPhen-2 0.23
- SIFT 0.41
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- UniProt: Uncertain significance (in MPS2)
- Most common in the Latino/Admixed American population (allele frequency 0.0001)
- Structural context available