D57L (p.Asp57Leu) variant of SPTBN4 (Q9H254)
D57L (p.Asp57Leu) in SPTBN4 (Q9H254) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
D57L (p.Asp57Leu) variant details
- p.Asp57Leu
- gnomAD 19-40472788-C-CTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.79
- CADD 28.30
- Population evidence available
- Structural context available
- Literature evidence available