L12L (p.Leu12Leu) variant of PIK3R2 (O00459)
L12L (p.Leu12Leu) in PIK3R2 (O00459) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- gnomAD 19-18155913-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 8.69
- Population evidence available
- Structural context available
- Literature evidence available