Q36* (p.Gln36Ter) variant of SPTBN4 (Q9H254)
Q36* (p.Gln36Ter) in SPTBN4 (Q9H254) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Q36* (p.Gln36Ter) variant details
- p.Gln36Ter
- ESP rs375002828
- ExAC rs375002828
- TOPMed rs375002828
- gnomAD rs375002828
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 39.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available