p.Arg6 Val8del variant of RIT1 (GTP-binding protein Rit1)
p.Arg6 Val8del in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg6 Val8del variant details
- rs1673578086
- gnomAD 1-155910737-CAACT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 16.40
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available