S76W (p.Ser76Trp) variant of ATRX (Chromatin remodeler ATRX)
S76W (p.Ser76Trp) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
S76W (p.Ser76Trp) variant details
- p.Ser76Trp
- ExAC rs782664370
- TOPMed rs782664370
- gnomAD rs782664370
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- ESM-1b 1.00
- AlphaMissense 0.32
- EBI: Benign
- UniProt: Benign
- Structural context available