T1884I (p.Thr1884Ile) variant of ATRX (Chromatin remodeler ATRX)
T1884I (p.Thr1884Ile) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disabi. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
T1884I (p.Thr1884Ile) variant details
- p.Thr1884Ile
- TOPMed rs2066634196
- Likely pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disabi
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome; Int)
- UniProt: Likely pathogenic
- Structural context available