S19T (p.Ser19Thr) variant of RIT1 (GTP-binding protein Rit1)
S19T (p.Ser19Thr) in RIT1 (GTP-binding protein Rit1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S19T (p.Ser19Thr) variant details
- p.Ser19Thr
- rs1277754109
- gnomAD 1-155910705-TGA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 27.30
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available