E2265K (p.Glu2265Lys) variant of ATRX (Chromatin remodeler ATRX)
E2265K (p.Glu2265Lys) 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 0.82 / 1. The record also includes published literature and structural context.
E2265K (p.Glu2265Lys) variant details
- p.Glu2265Lys
- rs2147760387
- ClinGen CA413709688
- ClinVar RCV003444076
- Ensembl rs2147760387
- Likely pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.79
- MetaSVM 0.72
- SIFT 0.09
- MutPred 0.31
- ClinVar: Likely pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)