V22I (p.Val22Ile) variant of IDS (Iduronate 2-sulfatase)
V22I (p.Val22Ile) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V22I (p.Val22Ile) variant details
- p.Val22Ile
- rs2520910307
- ClinGen CA414528356
- ClinVar RCV003090619
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.23
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.89
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)