Y17H (p.Tyr17His) variant of RAI1 (Retinoic acid-induced protein 1)
Y17H (p.Tyr17His) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Y17H (p.Tyr17His) variant details
- p.Tyr17His
- gnomAD 17-17792997-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.49
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available