E21R (p.Glu21Arg) variant of PIK3R2 (O00459)
E21R (p.Glu21Arg) in PIK3R2 (O00459) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E21R (p.Glu21Arg) variant details
- p.Glu21Arg
- gnomAD 19-18155938-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 9.19
- Population evidence available
- Structural context available
- Literature evidence available