R1661C (p.Arg1661Cys) variant of ATRX (Chromatin remodeler ATRX)
R1661C (p.Arg1661Cys) 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 not provided; Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R1661C (p.Arg1661Cys) variant details
- p.Arg1661Cys
- rs2148338047
- ClinGen CA413703832
- cosmic curated COSV64875
- ClinVar RCV003988713
- Likely pathogenic
- not provided; Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.96
- CADD 33.00
- ClinVar: Likely pathogenic (not provided; Alpha thalassemia-X-linked intellectual disability)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)