Y30D (p.Tyr30Asp) variant of RAI1 (Retinoic acid-induced protein 1)
Y30D (p.Tyr30Asp) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y30D (p.Tyr30Asp) variant details
- p.Tyr30Asp
- gnomAD 17-17793036-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.54
- ESM-1b 0.51
- AlphaMissense 0.84
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available