P47S (p.Pro47Ser) variant of PIK3CB (P42338)
P47S (p.Pro47Ser) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- ExAC rs770363808
- TOPMed rs770363808
- gnomAD rs770363808
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 18.90
- PolyPhen-2 0.12
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.3e-05)