p.Glu47dup variant of PIK3R1 (P27986)
p.Glu47dup in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
p.Glu47dup variant details
- rs1307114189
- gnomAD 5-68226813-G-GGAA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 21.20
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available