A205T (p.Ala205Thr) variant of IDS (Iduronate 2-sulfatase)
A205T (p.Ala205Thr) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A205T (p.Ala205Thr) variant details
- p.Ala205Thr
- rs864622779
- ClinGen CA414522339
- ClinVar RCV001007857
- Ensembl rs864622779
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.86
- AlphaMissense 0.31
- MetaLR 0.98
- MetaSVM 1.09
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Most common in the REMAINING population (allele frequency 4.3e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)