H60P (p.His60Pro) variant of PIK3CD (O00329)
H60P (p.His60Pro) in PIK3CD (O00329) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
H60P (p.His60Pro) variant details
- p.His60Pro
- rs1425252070
- gnomAD 1-9715575-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available