A57D (p.Ala57Asp) variant of RIT1 (GTP-binding protein Rit1)
A57D (p.Ala57Asp) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A57D (p.Ala57Asp) variant details
- p.Ala57Asp
- gnomAD 1-155904798-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.74
- MetaLR 0.39
- MetaSVM -0.04
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available