S63W (p.Ser63Trp) variant of PIK3CD (O00329)
S63W (p.Ser63Trp) in PIK3CD (O00329) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S63W (p.Ser63Trp) variant details
- p.Ser63Trp
- rs769308423
- gnomAD 1-9715585-CAG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 27.70
- Population evidence available
- Structural context available
- Literature evidence available