E5V (p.Glu5Val) variant of PIK3R2 (O00459)
E5V (p.Glu5Val) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E5V (p.Glu5Val) variant details
- p.Glu5Val
- gnomAD 19-18155893-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.24
- CADD 25.30
- PolyPhen-2 0.38
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available