E4C (p.Glu4Cys) variant of PIK3R1 (P27986)
E4C (p.Glu4Cys) in PIK3R1 (P27986) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E4C (p.Glu4Cys) variant details
- p.Glu4Cys
- gnomAD 5-68226680-G-GTGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.793
- CADD 29.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available