E4E (p.Glu4Glu) variant of PIK3R1 (P27986)
E4E (p.Glu4Glu) in PIK3R1 (P27986) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E4E (p.Glu4Glu) variant details
- p.Glu4Glu
- rs751272684
- gnomAD 5-68226687-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 9.46
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available