Q119H (p.Gln119His) variant of ATRX (Chromatin remodeler ATRX)
Q119H (p.Gln119His) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q119H (p.Gln119His) variant details
- p.Gln119His
- rs959739617
- ClinGen CA331569610
- ClinVar RCV000547719
- TOPMed rs959739617
- Likely benign
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Likely benign (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)