R73* (p.Arg73Ter) variant of SOS2 (Son of sevenless homolog 2)
R73* (p.Arg73Ter) in SOS2 (Son of sevenless homolog 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R73* (p.Arg73Ter) variant details
- p.Arg73Ter
- TOPMed rs1475534419
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 37.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available