L18H (p.Leu18His) variant of RIT1 (GTP-binding protein Rit1)
L18H (p.Leu18His) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L18H (p.Leu18His) variant details
- p.Leu18His
- gnomAD 1-155910709-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.11
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available