I2248T (p.Ile2248Thr) variant of ATRX (Chromatin remodeler ATRX)
I2248T (p.Ile2248Thr) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
I2248T (p.Ile2248Thr) variant details
- p.Ile2248Thr
- rs2147761759
- ClinGen CA413710117
- ClinVar RCV002037060
- Ensembl rs2147761759
- Likely pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.93
- SIFT 0.00
- MutPred 0.77
- ClinVar: Likely pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)