G30A (p.Gly30Ala) variant of RIT1 (GTP-binding protein Rit1)
G30A (p.Gly30Ala) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- gnomAD 1-155910673-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.44
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available