C90* (p.Cys90Ter) variant of PIK3CD (O00329)
C90* (p.Cys90Ter) in PIK3CD (O00329) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
C90* (p.Cys90Ter) variant details
- p.Cys90Ter
- ExAC rs775052663
- gnomAD rs775052663
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 29.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available