H166L (p.His166Leu) variant of ATRX (Chromatin remodeler ATRX)
H166L (p.His166Leu) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
H166L (p.His166Leu) variant details
- p.His166Leu
- Ensembl rs2148657354
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- ESM-1b 1.00
- AlphaMissense 0.75
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available