G161R (p.Gly161Arg) variant of ATRX (Chromatin remodeler ATRX)
G161R (p.Gly161Arg) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G161R (p.Gly161Arg) variant details
- p.Gly161Arg
- rs1569540314
- ClinGen CA413722846
- ClinVar RCV002149311
- Ensembl rs1569540314
- Likely benign
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.84
- CADD 23.70
- PolyPhen-2 0.91
- SIFT 0.10
- ClinVar: Likely benign (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)