C280Y (p.Cys280Tyr) variant of ATRX (Chromatin remodeler ATRX)
C280Y (p.Cys280Tyr) 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 Intellectual disability-hypotonic facies syndrome, X-linked, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C280Y (p.Cys280Tyr) variant details
- p.Cys280Tyr
- rs2071439399
- ClinGen CA413720534
- ClinVar RCV001254172
- Ensembl rs2071439399
- Likely pathogenic
- Intellectual disability-hypotonic facies syndrome, X-linked, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Intellectual disability-hypotonic facies syndrome, X-linked, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)