R42L (p.Arg42Leu) variant of RAI1 (Retinoic acid-induced protein 1)
R42L (p.Arg42Leu) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R42L (p.Arg42Leu) variant details
- p.Arg42Leu
- gnomAD 17-17793073-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.76
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available