Y1683C (p.Tyr1683Cys) variant of ATRX (Chromatin remodeler ATRX)
Y1683C (p.Tyr1683Cys) 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; ATRX-related disord. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
Y1683C (p.Tyr1683Cys) variant details
- p.Tyr1683Cys
- rs1602979414
- ClinGen CA413703461
- ClinVar RCV000853395
- Ensembl rs1602979414
- Likely pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome; ATRX-related disord
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- SIFT 0.00
- MutPred 0.91
- ClinVar: Likely pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome; ATR)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)