D57Y (p.Asp57Tyr) variant of SPTBN4 (Q9H254)
D57Y (p.Asp57Tyr) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
D57Y (p.Asp57Tyr) variant details
- p.Asp57Tyr
- gnomAD 19-40472790-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- MetaLR 0.56
- MetaSVM 0.28
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available