R147* (p.Arg147Ter) variant of SPTBN2 (O15020)
R147* (p.Arg147Ter) in SPTBN2 (O15020) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data.
R147* (p.Arg147Ter) variant details
- p.Arg147Ter
- TOPMed rs1817109370
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 36.00
- Most common in the REMAINING population (allele frequency 1.7e-05)