H1609Y (p.His1609Tyr) variant of ATRX (Chromatin remodeler ATRX)
H1609Y (p.His1609Tyr) 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 0.96 / 1. The record also includes published literature and structural context.
H1609Y (p.His1609Tyr) variant details
- p.His1609Tyr
- rs2522399270
- ClinGen CA413704778
- ClinVar RCV003397224
- Likely pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- ESM-1b 1.00
- AlphaMissense 0.91
- ClinVar: Likely pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Likely pathogenic (in ATRX)
- UniProt: Likely pathogenic (in ATRX)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)