C223R (p.Cys223Arg) variant of ATRX (Chromatin remodeler ATRX)
C223R (p.Cys223Arg) 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 Intellectual disability-hypotonic facies syndrome, X-linked, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
C223R (p.Cys223Arg) variant details
- p.Cys223Arg
- rs2520030124
- ClinGen CA413720944
- ClinVar RCV003989458
- Likely pathogenic
- Intellectual disability-hypotonic facies syndrome, X-linked, 1
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Intellectual disability-hypotonic facies syndrome, X-linked, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)