P97A (p.Pro97Ala) variant of PIK3CD (O00329)
P97A (p.Pro97Ala) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P97A (p.Pro97Ala) variant details
- p.Pro97Ala
- gnomAD 1-9715688-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.45
- MetaLR 0.52
- MetaSVM -0.17
- CADD 22.90
- PolyPhen-2 0.90
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available