L96P (p.Leu96Pro) variant of PIK3CD (O00329)
L96P (p.Leu96Pro) in PIK3CD (O00329) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L96P (p.Leu96Pro) variant details
- p.Leu96Pro
- gnomAD 1-9715683-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available