E81Q (p.Glu81Gln) variant of PIK3CD (O00329)
E81Q (p.Glu81Gln) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E81Q (p.Glu81Gln) variant details
- p.Glu81Gln
- gnomAD rs1253851300
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.63
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available