L23P (p.Leu23Pro) variant of PIK3R2 (O00459)
L23P (p.Leu23Pro) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L23P (p.Leu23Pro) variant details
- p.Leu23Pro
- gnomAD 19-18155947-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.42
- CADD 31.00
- PolyPhen-2 0.77
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available