K53* (p.Lys53Ter) variant of SPTBN4 (Q9H254)
K53* (p.Lys53Ter) in SPTBN4 (Q9H254) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
K53* (p.Lys53Ter) variant details
- p.Lys53Ter
- gnomAD 19-40472778-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 41.00
- Population evidence available
- Structural context available
- Literature evidence available