A11V (p.Ala11Val) variant of PIK3R2 (O00459)
A11V (p.Ala11Val) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- gnomAD 19-18155911-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.27
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available