R55* (p.Arg55Ter) variant of SPTBN2 (O15020)
R55* (p.Arg55Ter) in SPTBN2 (O15020) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
R55* (p.Arg55Ter) variant details
- p.Arg55Ter
- cosmic curated COSV10964
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.842
- CADD 36.00
- Most common in the East Asian population (allele frequency 2.5e-05)