I1680T (p.Ile1680Thr) variant of ATRX (Chromatin remodeler ATRX)
I1680T (p.Ile1680Thr) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
I1680T (p.Ile1680Thr) variant details
- p.Ile1680Thr
- rs1557106482
- ClinGen CA413703513
- ClinVar RCV000659282
- Ensembl rs1557106482
- Pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- SIFT 0.00
- MutPred 0.85
- ClinVar: Pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)