S22L (p.Ser22Leu) variant of PIK3CB (P42338)
S22L (p.Ser22Leu) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- TOPMed rs1195526427
- gnomAD rs1195526427
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 23.10
- Most common in the East Asian population (allele frequency 0.00019)