E60K (p.Glu60Lys) variant of RAI1 (Retinoic acid-induced protein 1)
E60K (p.Glu60Lys) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- gnomAD 17-17793126-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.41
- CADD 22.70
- PolyPhen-2 0.32
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available