D93G (p.Asp93Gly) variant of ATRX (Chromatin remodeler ATRX)
D93G (p.Asp93Gly) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
D93G (p.Asp93Gly) variant details
- p.Asp93Gly
- rs1064796774
- ClinGen CA413724057
- ClinVar RCV001817441
- TOPMed rs1064796774
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- ESM-1b 0.99
- AlphaMissense 0.10
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.23
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available