D57D (p.Asp57Asp) variant of SPTBN4 (Q9H254)
D57D (p.Asp57Asp) in SPTBN4 (Q9H254) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D57D (p.Asp57Asp) variant details
- p.Asp57Asp
- rs754902114
- gnomAD 19-40487698-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 16.00
- Population evidence available
- Structural context available
- Literature evidence available