S48I (p.Ser48Ile) variant of ATRX (Chromatin remodeler ATRX)
S48I (p.Ser48Ile) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
S48I (p.Ser48Ile) variant details
- p.Ser48Ile
- TOPMed rs1326600949
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available