P20Q (p.Pro20Gln) variant of PIK3R2 (O00459)
P20Q (p.Pro20Gln) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P20Q (p.Pro20Gln) variant details
- p.Pro20Gln
- gnomAD 19-18155938-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.10
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available