R10L (p.Arg10Leu) variant of PIK3R2 (O00459)
R10L (p.Arg10Leu) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- gnomAD 19-18155908-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.19
- CADD 24.70
- PolyPhen-2 0.22
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available