E21S (p.Glu21Ser) variant of RIT1 (GTP-binding protein Rit1)
E21S (p.Glu21Ser) in RIT1 (GTP-binding protein Rit1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E21S (p.Glu21Ser) variant details
- p.Glu21Ser
- rs747459574
- gnomAD 1-155910700-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 26.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available