R160H (p.Arg160His) variant of ATRX (Chromatin remodeler ATRX)
R160H (p.Arg160His) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alpha thalassemia-X-linked intellectual disability syndrome; Acquired hemoglobin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R160H (p.Arg160His) variant details
- p.Arg160His
- rs2072039122
- ClinGen CA413722848
- NCI-TCGA Cosmic COSV1009
- ClinVar RCV001329932
- Uncertain significance
- Alpha thalassemia-X-linked intellectual disability syndrome; Acquired hemoglobin
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.68
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Alpha thalassemia-X-linked intellectual disability syndrome; Acq)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)