H189Y (p.His189Tyr) variant of ATRX (Chromatin remodeler ATRX)
H189Y (p.His189Tyr) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
H189Y (p.His189Tyr) variant details
- p.His189Tyr
- rs2148656473
- ClinGen CA413722496
- ClinVar RCV002226570
- Ensembl rs2148656473
- Likely pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)