A3D (p.Ala3Asp) variant of ATRX (Chromatin remodeler ATRX)
A3D (p.Ala3Asp) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes population frequency data and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- TOPMed rs868952037
- gnomAD rs868952037
- Uncertain significance
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.71
- CADD 23.70
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Uncertain significance (Alpha thalassemia-X-linked intellectual disability syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available