R78P (p.Arg78Pro) variant of ATRX (Chromatin remodeler ATRX)
R78P (p.Arg78Pro) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes structural context.
R78P (p.Arg78Pro) variant details
- p.Arg78Pro
- TOPMed rs2072253922
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- ESM-1b 0.00
- AlphaMissense 0.89
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available