E47Q (p.Glu47Gln) variant of PIK3R1 (P27986)
E47Q (p.Glu47Gln) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E47Q (p.Glu47Gln) variant details
- p.Glu47Gln
- ESP rs373560990
- ExAC rs373560990
- TOPMed rs373560990
- gnomAD rs373560990
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.27
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available