S33N (p.Ser33Asn) variant of ATRX (Chromatin remodeler ATRX)
S33N (p.Ser33Asn) 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 not provided; Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
S33N (p.Ser33Asn) variant details
- p.Ser33Asn
- rs2520309965
- ClinGen CA413724603
- ClinVar RCV002582332
- ClinVar RCV005052005
- Uncertain significance
- not provided; Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- ClinVar: Uncertain significance (not provided; Alpha thalassemia-X-linked intellectual disability)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)