Q6* (p.Gln6Ter) variant of SOS2 (Son of sevenless homolog 2)
Q6* (p.Gln6Ter) in SOS2 (Son of sevenless homolog 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
Q6* (p.Gln6Ter) variant details
- p.Gln6Ter
- rs2503347249
- ClinVar RCV004593530
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.807
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available