R2131Q (p.Arg2131Gln) variant of ATRX (Chromatin remodeler ATRX)
R2131Q (p.Arg2131Gln) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ATRX-related disorder; Alpha thalassemia-X-linked intellectual disability syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R2131Q (p.Arg2131Gln) variant details
- p.Arg2131Gln
- rs122445101
- ClinGen CA121644
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10097
- Pathogenic/Likely pathogenic
- ATRX-related disorder; Alpha thalassemia-X-linked intellectual disability syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.66
- MetaSVM 0.52
- CADD 27.30
- ClinVar: Pathogenic/Likely pathogenic (ATRX-related disorder; Alpha thalassemia-X-linked intellectual d)
- EBI: Pathogenic (in MRXHF1 and ATRX)
- UniProt: Pathogenic (in MRXHF1 and ATRX)
- Population evidence available
- Structural context available
- Cited in: X-linked mental retardation, growth retardation, deafness and microgenitalism. A second familial report. (PMID 6682021)
- Cited in: XNP mutation in a large family with Juberg-Marsidi syndrome. (PMID 8630485)