C1614R (p.Cys1614Arg) variant of ATRX (Chromatin remodeler ATRX)
C1614R (p.Cys1614Arg) 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 0.77 / 1. The record also includes published literature and structural context.
C1614R (p.Cys1614Arg) variant details
- p.Cys1614Arg
- rs122445094
- ClinGen CA256019
- ClinVar RCV000012488
- UniProt VAR 001235
- Pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- ESM-1b 1.00
- AlphaMissense 0.53
- MetaLR 0.75
- MetaSVM 0.41
- SIFT 0.05
- MutPred 0.62
- 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)