R2178W (p.Arg2178Trp) variant of ATRX (Chromatin remodeler ATRX)
R2178W (p.Arg2178Trp) 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 Intellectual disability-hypotonic facies syndrome, X-linked, 1; not provided; Al. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
R2178W (p.Arg2178Trp) variant details
- p.Arg2178Trp
- rs1057517707
- ClinGen CA16043291
- cosmic curated COSV10592
- ClinVar RCV000414248
- Pathogenic/Likely pathogenic
- Intellectual disability-hypotonic facies syndrome, X-linked, 1; not provided; Al
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.07
- SIFT 0.00
- MutPred 0.87
- ClinVar: Pathogenic/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)