S53Y (p.Ser53Tyr) variant of PIK3CB (P42338)
S53Y (p.Ser53Tyr) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
S53Y (p.Ser53Tyr) variant details
- p.Ser53Tyr
- TOPMed rs1184724506
- gnomAD rs1184724506
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 25.50
- PolyPhen-2 0.76
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00019)