L58F (p.Leu58Phe) variant of PIK3CD (O00329)
L58F (p.Leu58Phe) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- gnomAD 1-9715571-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.29
- CADD 18.50
- PolyPhen-2 0.17
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available