L49V (p.Leu49Val) variant of PIK3CD (O00329)
L49V (p.Leu49Val) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L49V (p.Leu49Val) variant details
- p.Leu49Val
- gnomAD 1-9715544-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.14
- CADD 12.20
- PolyPhen-2 0.10
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available