C7R (p.Cys7Arg) variant of PIK3CD (O00329)
C7R (p.Cys7Arg) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
C7R (p.Cys7Arg) variant details
- p.Cys7Arg
- ExAC rs772424669
- TOPMed rs772424669
- gnomAD rs772424669
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.29
- CADD 23.00
- PolyPhen-2 0.40
- SIFT 0.19
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available