A23T (p.Ala23Thr) variant of IDS (Iduronate 2-sulfatase)
A23T (p.Ala23Thr) 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-III-A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs782815584
- NCI-TCGA Cosmic COSV6171
- cosmic curated COSV61711
- ExAC rs782815584
- Uncertain significance
- Mucopolysaccharidosis, MPS-III-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.31
- CADD 3.04
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-III-A)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available