Y51D (p.Tyr51Asp) variant of RAI1 (Retinoic acid-induced protein 1)
Y51D (p.Tyr51Asp) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Y51D (p.Tyr51Asp) variant details
- p.Tyr51Asp
- gnomAD 17-17793099-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.72
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available