A11D (p.Ala11Asp) variant of PIK3R2 (O00459)
A11D (p.Ala11Asp) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A11D (p.Ala11Asp) variant details
- p.Ala11Asp
- gnomAD 19-18155911-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.41
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available