E28Q (p.Glu28Gln) variant of RAI1 (Retinoic acid-induced protein 1)
E28Q (p.Glu28Gln) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- gnomAD 17-17793030-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.65
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available