C243W (p.Cys243Trp) variant of ATRX (Chromatin remodeler ATRX)
C243W (p.Cys243Trp) 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 not provided; Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C243W (p.Cys243Trp) variant details
- p.Cys243Trp
- rs1057524153
- ClinGen CA16608993
- ClinVar RCV000419781
- ClinVar RCV000990876
- Likely pathogenic
- not provided; Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Alpha thalassemia-X-linked intellectual disability)
- EBI: Likely pathogenic (in ATRX)
- UniProt: Likely pathogenic (in ATRX)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)