A72E (p.Ala72Glu) variant of RAI1 (Retinoic acid-induced protein 1)
A72E (p.Ala72Glu) in RAI1 (Retinoic acid-induced protein 1) 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 0.25 / 1. The record also includes structural context.
A72E (p.Ala72Glu) variant details
- p.Ala72Glu
- ExAC rs772784544
- TOPMed rs772784544
- gnomAD rs772784544
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- ESM-1b 0.00
- AlphaMissense 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available