F4L (p.Phe4Leu) variant of RAI1 (Retinoic acid-induced protein 1)
F4L (p.Phe4Leu) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- gnomAD 17-17792960-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 1.00
- CADD 24.80
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available