Y68L (p.Tyr68Leu) variant of PIK3CD (O00329)
Y68L (p.Tyr68Leu) in PIK3CD (O00329) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y68L (p.Tyr68Leu) variant details
- p.Tyr68Leu
- rs1319488447
- gnomAD 1-9715600-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 32.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available