D29Y (p.Asp29Tyr) variant of SPTBN4 (Q9H254)
D29Y (p.Asp29Tyr) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D29Y (p.Asp29Tyr) variant details
- p.Asp29Tyr
- gnomAD 19-40472706-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- MetaLR 0.46
- MetaSVM -0.12
- CADD 26.90
- PolyPhen-2 0.82
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available