C12G (p.Cys12Gly) variant of RIT1 (GTP-binding protein Rit1)
C12G (p.Cys12Gly) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
C12G (p.Cys12Gly) variant details
- p.Cys12Gly
- ExAC rs773931858
- gnomAD rs773931858
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.04
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available