E83Q (p.Glu83Gln) variant of PIK3CD (O00329)
E83Q (p.Glu83Gln) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E83Q (p.Glu83Gln) variant details
- p.Glu83Gln
- ESP rs377713059
- ExAC rs377713059
- gnomAD rs377713059
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.27
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available