G75E (p.Gly75Glu) variant of ATRX (Chromatin remodeler ATRX)
G75E (p.Gly75Glu) 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 0.24 / 1. The record also includes structural context.
G75E (p.Gly75Glu) variant details
- p.Gly75Glu
- cosmic curated COSV64869
- ExAC rs782198677
- gnomAD rs782198677
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- ESM-1b 0.00
- AlphaMissense 0.41
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available