D163E (p.Asp163Glu) variant of ATRX (Chromatin remodeler ATRX)
D163E (p.Asp163Glu) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes published literature and structural context.
D163E (p.Asp163Glu) variant details
- p.Asp163Glu
- rs2520079088
- ClinGen CA413722811
- ClinVar RCV003625506
- Uncertain significance
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- ESM-1b 0.00
- AlphaMissense 0.31
- ClinVar: Uncertain significance (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)