K175* (p.Lys175Ter) variant of SPTBN2 (O15020)
K175* (p.Lys175Ter) in SPTBN2 (O15020) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
K175* (p.Lys175Ter) variant details
- p.Lys175Ter
- gnomAD rs1431236793
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 37.00
- Most common in the South Asian population (allele frequency 1.2e-05)