L42L (p.Leu42Leu) variant of PIK3CD (O00329)
L42L (p.Leu42Leu) in PIK3CD (O00329) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- rs1263794275
- gnomAD 1-9710581-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 10.90
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available