S54T (p.Ser54Thr) variant of ATRX (Chromatin remodeler ATRX)
S54T (p.Ser54Thr) 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 0.44 / 1. The record also includes published literature and structural context.
S54T (p.Ser54Thr) variant details
- p.Ser54Thr
- rs2072320573
- ClinGen CA413724434
- ClinVar RCV002000612
- TOPMed rs2072320573
- Uncertain significance
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.80
- MetaSVM 0.17
- PolyPhen-2 0.89
- SIFT 0.06
- 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)