L26M (p.Leu26Met) variant of PIK3CD (O00329)
L26M (p.Leu26Met) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L26M (p.Leu26Met) variant details
- p.Leu26Met
- gnomAD 1-9710531-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.38
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available