Y2163C (p.Tyr2163Cys) variant of ATRX (Chromatin remodeler ATRX)
Y2163C (p.Tyr2163Cys) 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 0.87 / 1. The record also includes published literature and structural context.
Y2163C (p.Tyr2163Cys) variant details
- p.Tyr2163Cys
- rs122445098
- ClinGen CA256031
- ClinVar RCV000012493
- UniProt VAR 001241
- Pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.87
- MetaSVM 0.93
- SIFT 0.01
- MutPred 0.70
- ClinVar: Pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Pathogenic (in ATRX)
- UniProt: Pathogenic (in ATRX)
- Structural context available
- Cited in: Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia… (PMID 7697714)
- Cited in: ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X… (PMID 8968741)