E19G (p.Glu19Gly) variant of PIK3R1 (P27986)
E19G (p.Glu19Gly) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- gnomAD 5-68226731-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.27
- CADD 24.90
- PolyPhen-2 0.53
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available