A56A (p.Ala56Ala) variant of SPTBN4 (Q9H254)
A56A (p.Ala56Ala) in SPTBN4 (Q9H254) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A56A (p.Ala56Ala) variant details
- p.Ala56Ala
- gnomAD 19-40472789-A-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available