V5L (p.Val5Leu) variant of PIK3CD (O00329)
V5L (p.Val5Leu) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- gnomAD 1-9710468-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.07
- CADD 21.80
- PolyPhen-2 0.06
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available