P27L (p.Pro27Leu) variant of PIK3R2 (O00459)
P27L (p.Pro27Leu) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- cosmic curated COSV53218
- ExAC rs778478327
- gnomAD rs778478327
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.14
- CADD 23.00
- PolyPhen-2 0.37
- SIFT 0.12
- Population evidence available
- Structural context available