E49G (p.Glu49Gly) variant of PIK3CB (P42338)
E49G (p.Glu49Gly) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
E49G (p.Glu49Gly) variant details
- p.Glu49Gly
- gnomAD rs2045627011
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 24.10
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)