P3S (p.Pro3Ser) variant of PIK3CD (O00329)
P3S (p.Pro3Ser) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P3S (p.Pro3Ser) variant details
- p.Pro3Ser
- cosmic curated COSV63131
- ExAC rs750425882
- TOPMed rs750425882
- gnomAD rs750425882
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.57
- CADD 24.80
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available