V133L (p.Val133Leu) variant of ATRX (Chromatin remodeler ATRX)
V133L (p.Val133Leu) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes published literature and structural context.
V133L (p.Val133Leu) variant details
- p.Val133Leu
- rs2520122598
- ClinGen CA413723050
- ClinVar RCV003626021
- Uncertain significance
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- ESM-1b 0.00
- AlphaMissense 0.58
- ClinVar: Uncertain significance (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)