E19Q (p.Glu19Gln) variant of PIK3R1 (P27986)
E19Q (p.Glu19Gln) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- gnomAD 5-68226730-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.22
- CADD 26.00
- PolyPhen-2 0.79
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available