C116F (p.Cys116Phe) variant of PIK3CB (P42338)
C116F (p.Cys116Phe) 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.
C116F (p.Cys116Phe) variant details
- p.Cys116Phe
- gnomAD rs1323338734
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 25.60
- PolyPhen-2 0.74
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00021)