K13E (p.Lys13Glu) variant of RAI1 (Retinoic acid-induced protein 1)
K13E (p.Lys13Glu) 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.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- gnomAD 17-17792985-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.45
- CADD 24.30
- PolyPhen-2 0.35
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available