R2085H (p.Arg2085His) variant of ATRX (Chromatin remodeler ATRX)
R2085H (p.Arg2085His) 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 not provided; ATRX-related disorder; Alpha thalassemia-X-linked intellectual dis. 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.
R2085H (p.Arg2085His) variant details
- p.Arg2085His
- rs1057517948
- ClinGen CA16043310
- cosmic curated COSV10529
- ClinVar RCV000413472
- Pathogenic/Likely pathogenic
- not provided; ATRX-related disorder; Alpha thalassemia-X-linked intellectual dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.71
- CADD 27.60
- ClinVar: Pathogenic/Likely pathogenic (not provided; ATRX-related disorder; Alpha thalassemia-X-linked)
- EBI: Pathogenic
- UniProt: 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)