D117E (p.Asp117Glu) variant of PIK3CB (P42338)
D117E (p.Asp117Glu) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
D117E (p.Asp117Glu) variant details
- p.Asp117Glu
- TOPMed rs2045556094
- gnomAD rs2045556094
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 17.40
- PolyPhen-2 0.51
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)