S71C (p.Ser71Cys) variant of ATRX (Chromatin remodeler ATRX)
S71C (p.Ser71Cys) 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 0.41 / 1. The record also includes structural context.
S71C (p.Ser71Cys) variant details
- p.Ser71Cys
- Ensembl rs2148681475
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- ESM-1b 0.34
- AlphaMissense 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available