E20D (p.Glu20Asp) variant of PIK3R1 (P27986)
E20D (p.Glu20Asp) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- TOPMed rs1450727380
- gnomAD rs1450727380
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.24
- CADD 23.10
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available