S71Y (p.Ser71Tyr) variant of ATRX (Chromatin remodeler ATRX)
S71Y (p.Ser71Tyr) 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 0.46 / 1. The record also includes structural context.
S71Y (p.Ser71Tyr) variant details
- p.Ser71Tyr
- Ensembl rs2148681475
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- ESM-1b 0.48
- AlphaMissense 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available