C90A (p.Cys90Ala) variant of PIK3CD (O00329)
C90A (p.Cys90Ala) in PIK3CD (O00329) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C90A (p.Cys90Ala) variant details
- p.Cys90Ala
- gnomAD 1-9715658-C-CGGCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available