D29Y (p.Asp29Tyr) variant of PIK3R2 (O00459)
D29Y (p.Asp29Tyr) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D29Y (p.Asp29Tyr) variant details
- p.Asp29Tyr
- gnomAD 19-18155964-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.54
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available