R19L (p.Arg19Leu) variant of PIK3R2 (O00459)
R19L (p.Arg19Leu) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- gnomAD 19-18155935-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.14
- CADD 28.20
- PolyPhen-2 0.59
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available