A1790T (p.Ala1790Thr) variant of ATRX (Chromatin remodeler ATRX)
A1790T (p.Ala1790Thr) 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 0.52 / 1. The record also includes published literature and structural context.
A1790T (p.Ala1790Thr) variant details
- p.Ala1790Thr
- rs2148259374
- ClinGen CA413700783
- ClinVar RCV002299866
- Ensembl rs2148259374
- Likely pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- ESM-1b 0.00
- AlphaMissense 0.90
- MetaLR 0.82
- MetaSVM 0.53
- SIFT 0.13
- MutPred 0.62
- 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)