S53F (p.Ser53Phe) variant of PIK3CB (P42338)
S53F (p.Ser53Phe) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
S53F (p.Ser53Phe) variant details
- p.Ser53Phe
- TOPMed rs1184724506
- gnomAD rs1184724506
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 24.40
- PolyPhen-2 0.76
- SIFT 0.09
- Most common in the East Asian population (allele frequency 7.6e-05)