R78Q (p.Arg78Gln) variant of ATRX (Chromatin remodeler ATRX)
R78Q (p.Arg78Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R78Q (p.Arg78Gln) variant details
- p.Arg78Gln
- NCI-TCGA Cosmic COSV6487
- cosmic curated COSV64870
- TOPMed rs2072253922
- Uncertain significance
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.89
- MetaLR 0.97
- MetaSVM 1.10
- CADD 23.80
- ClinVar: Uncertain significance (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available