S10L (p.Ser10Leu) variant of RIT1 (GTP-binding protein Rit1)
S10L (p.Ser10Leu) in RIT1 (GTP-binding protein Rit1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S10L (p.Ser10Leu) variant details
- p.Ser10Leu
- rs1673578024
- gnomAD 1-155910733-CTA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 17.10
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available