L253S (p.Leu253Ser) variant of ATRX (Chromatin remodeler ATRX)
L253S (p.Leu253Ser) 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; Alpha thalassemi. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
L253S (p.Leu253Ser) variant details
- p.Leu253Ser
- rs2148638603
- ClinGen CA413720731
- ClinVar RCV003148562
- ClinVar RCV003148563
- Likely pathogenic
- Intellectual disability-hypotonic facies syndrome, X-linked, 1; Alpha thalassemi
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- 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)