E20del (p.Glu20del) variant of PIK3R1 (P27986)
E20del (p.Glu20del) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E20del (p.Glu20del) variant details
- gnomAD 5-68226728-GAGA-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 20.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available