E17G (p.Glu17Gly) variant of PIK3R1 (P27986)
E17G (p.Glu17Gly) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E17G (p.Glu17Gly) variant details
- p.Glu17Gly
- rs1316465864
- gnomAD 5-68239932-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00066)
- Structural context available
- Literature evidence available