L12P (p.Leu12Pro) variant of PIK3R2 (O00459)
L12P (p.Leu12Pro) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- gnomAD 19-18155914-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.29
- CADD 28.40
- PolyPhen-2 0.75
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available