L18F (p.Leu18Phe) variant of RIT1 (GTP-binding protein Rit1)
L18F (p.Leu18Phe) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- gnomAD 1-155910710-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.12
- CADD 18.80
- PolyPhen-2 0.11
- SIFT 0.84
- Population evidence available
- Structural context available
- Literature evidence available