Y1847C (p.Tyr1847Cys) variant of ATRX (Chromatin remodeler ATRX)
Y1847C (p.Tyr1847Cys) 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 Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disabilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
Y1847C (p.Tyr1847Cys) variant details
- p.Tyr1847Cys
- rs1057521987
- ClinGen CA413700226
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10097
- Likely pathogenic
- Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disabilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.00
- MutPred 0.91
- ClinVar: Likely pathogenic (Acquired hemoglobin H disease; Alpha thalassemia-X-linked intell)
- EBI: Pathogenic (in ATRX)
- UniProt: Pathogenic (in ATRX)
- Structural context available
- Cited in: Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). (PMID 10995512)
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)