Q8K (p.Gln8Lys) variant of PIK3R2 (O00459)
Q8K (p.Gln8Lys) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q8K (p.Gln8Lys) variant details
- p.Gln8Lys
- gnomAD 19-18155901-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.08
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available