D68E (p.Asp68Glu) variant of PIK3R1 (P27986)
D68E (p.Asp68Glu) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D68E (p.Asp68Glu) variant details
- p.Asp68Glu
- gnomAD rs1298997052
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.13
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available