L31P (p.Leu31Pro) variant of PIK3R2 (O00459)
L31P (p.Leu31Pro) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- gnomAD 19-18155971-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.54
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available