E10K (p.Glu10Lys) variant of PIK3CD (O00329)
E10K (p.Glu10Lys) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- 1000Genomes rs200039969
- ExAC rs200039969
- gnomAD rs200039969
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.34
- CADD 24.70
- PolyPhen-2 0.21
- SIFT 0.04
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available