V90L (p.Val90Leu) variant of ATRX (Chromatin remodeler ATRX)
V90L (p.Val90Leu) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
V90L (p.Val90Leu) variant details
- p.Val90Leu
- ExAC rs781943078
- TOPMed rs781943078
- gnomAD rs781943078
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- ESM-1b 0.00
- AlphaMissense 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available