G30D (p.Gly30Asp) variant of RIT1 (GTP-binding protein Rit1)
G30D (p.Gly30Asp) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- gnomAD 1-155910673-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.54
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available