S2041N (p.Ser2041Asn) variant of ATRX (Chromatin remodeler ATRX)
S2041N (p.Ser2041Asn) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
S2041N (p.Ser2041Asn) variant details
- p.Ser2041Asn
- rs1060499658
- ClinGen CA16609409
- ClinVar RCV000449558
- Ensembl rs1060499658
- Pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.85
- MetaSVM 0.88
- SIFT 0.03
- MutPred 0.69
- ClinVar: Pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)