G30V (p.Gly30Val) variant of RIT1 (GTP-binding protein Rit1)
G30V (p.Gly30Val) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- cosmic curated COSV64167
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.52
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available