P3A (p.Pro3Ala) variant of PIK3CD (O00329)
P3A (p.Pro3Ala) in PIK3CD (O00329) is a missense 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.
P3A (p.Pro3Ala) variant details
- p.Pro3Ala
- ExAC rs750425882
- TOPMed rs750425882
- gnomAD rs750425882
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.54
- CADD 24.20
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available