R52S (p.Arg52Ser) variant of PIK3CD (O00329)
R52S (p.Arg52Ser) in PIK3CD (O00329) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R52S (p.Arg52Ser) variant details
- p.Arg52Ser
- gnomAD 1-9715548-G-GGCAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.84
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available