D139Y (p.Asp139Tyr) variant of ATRX (Chromatin remodeler ATRX)
D139Y (p.Asp139Tyr) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
D139Y (p.Asp139Tyr) variant details
- p.Asp139Tyr
- rs2148669890
- ClinGen CA413723007
- ClinVar RCV002273678
- Ensembl rs2148669890
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.90
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available