T65S (p.Thr65Ser) variant of ATRX (Chromatin remodeler ATRX)
T65S (p.Thr65Ser) 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 0.27 / 1. The record also includes structural context.
T65S (p.Thr65Ser) variant details
- p.Thr65Ser
- Ensembl rs2148681705
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available