L134R (p.Leu134Arg) variant of ATRX (Chromatin remodeler ATRX)
L134R (p.Leu134Arg) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes published literature and structural context.
L134R (p.Leu134Arg) variant details
- p.Leu134Arg
- rs2520122502
- ClinGen CA2695197158
- ClinVar RCV003459814
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- ESM-1b 0.00
- AlphaMissense 0.37
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)