E24S (p.Glu24Ser) variant of PIK3R2 (O00459)
E24S (p.Glu24Ser) in PIK3R2 (O00459) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E24S (p.Glu24Ser) variant details
- p.Glu24Ser
- gnomAD 19-18155947-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available