E45G (p.Glu45Gly) variant of PIK3CB (P42338)
E45G (p.Glu45Gly) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E45G (p.Glu45Gly) variant details
- p.Glu45Gly
- gnomAD rs2045627224
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available