W32* (p.Trp32Ter) variant of SPTBN4 (Q9H254)
W32* (p.Trp32Ter) in SPTBN4 (Q9H254) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
W32* (p.Trp32Ter) variant details
- p.Trp32Ter
- TOPMed rs1230516341
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available