Q18E (p.Gln18Glu) variant of RAI1 (Retinoic acid-induced protein 1)
Q18E (p.Gln18Glu) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q18E (p.Gln18Glu) variant details
- p.Gln18Glu
- gnomAD 17-17793000-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available