C243R (p.Cys243Arg) variant of ATRX (Chromatin remodeler ATRX)
C243R (p.Cys243Arg) 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 1.00 / 1. The record also includes structural context.
C243R (p.Cys243Arg) variant details
- p.Cys243Arg
- Ensembl rs2148639279
- Likely pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Likely pathogenic (in ATRX)
- UniProt: Likely pathogenic (in ATRX)
- Structural context available