H189Q (p.His189Gln) variant of ATRX (Chromatin remodeler ATRX)
H189Q (p.His189Gln) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 structural context.
H189Q (p.His189Gln) variant details
- p.His189Gln
- Ensembl rs1603233545
- Pathogenic
- Intellectual disability-hypotonic facies syndrome, X-linked, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Intellectual disability-hypotonic facies syndrome, X-linked, 1)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available