S43R (p.Ser43Arg) variant of RIT1 (GTP-binding protein Rit1)
S43R (p.Ser43Arg) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S43R (p.Ser43Arg) variant details
- p.Ser43Arg
- ExAC rs769063568
- gnomAD rs769063568
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.50
- CADD 24.50
- PolyPhen-2 0.83
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available