R2085L (p.Arg2085Leu) variant of ATRX (Chromatin remodeler ATRX)
R2085L (p.Arg2085Leu) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability-hypotonic facies syndrome, X-linked, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R2085L (p.Arg2085Leu) variant details
- p.Arg2085Leu
- rs1057517948
- ClinGen CA413701166
- ClinVar RCV000785929
- Ensembl rs1057517948
- Likely pathogenic
- Intellectual disability-hypotonic facies syndrome, X-linked, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.71
- SIFT 0.00
- MutPred 0.97
- ClinVar: Likely pathogenic (Intellectual disability-hypotonic facies syndrome, X-linked, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)