Q8L (p.Gln8Leu) variant of PIK3R2 (O00459)
Q8L (p.Gln8Leu) 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.
Q8L (p.Gln8Leu) variant details
- p.Gln8Leu
- gnomAD 19-18155902-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.28
- CADD 27.90
- PolyPhen-2 0.67
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available