E48Q (p.Glu48Gln) variant of RIT1 (GTP-binding protein Rit1)
E48Q (p.Glu48Gln) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- TOPMed rs1165493340
- gnomAD rs1165493340
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.47
- CADD 27.50
- PolyPhen-2 0.71
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available