N1694D (p.Asn1694Asp) variant of ATRX (Chromatin remodeler ATRX)
N1694D (p.Asn1694Asp) 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 0.79 / 1. The record also includes published literature and structural context.
N1694D (p.Asn1694Asp) variant details
- p.Asn1694Asp
- rs2068193669
- ClinGen CA413703234
- ClinVar RCV001252426
- Ensembl rs2068193669
- Likely pathogenic
- Intellectual disability-hypotonic facies syndrome, X-linked, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.74
- MetaSVM 0.57
- SIFT 0.05
- MutPred 0.39
- ClinVar: Likely pathogenic (Intellectual disability-hypotonic facies syndrome, X-linked, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)