W25* (p.Trp25Ter) variant of SPTBN4 (Q9H254)
W25* (p.Trp25Ter) 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, published literature, and structural context.
W25* (p.Trp25Ter) variant details
- p.Trp25Ter
- gnomAD 19-40472696-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 41.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available