D2035G (p.Asp2035Gly) variant of ATRX (Chromatin remodeler ATRX)
D2035G (p.Asp2035Gly) 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 0.94 / 1. The record also includes published literature and structural context.
D2035G (p.Asp2035Gly) variant details
- p.Asp2035Gly
- rs122445096
- ClinGen CA413702706
- ClinVar RCV000990873
- Ensembl rs122445096
- Likely pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.97
- SIFT 0.00
- MutPred 0.84
- ClinVar: Likely pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Pathogenic (in ATRX)
- UniProt: Pathogenic (in ATRX)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)