L48L (p.Leu48Leu) variant of PIK3CD (O00329)
L48L (p.Leu48Leu) in PIK3CD (O00329) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L48L (p.Leu48Leu) variant details
- p.Leu48Leu
- gnomAD 1-9715541-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available