Y68C (p.Tyr68Cys) variant of PIK3CD (O00329)
Y68C (p.Tyr68Cys) in PIK3CD (O00329) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Y68C (p.Tyr68Cys) variant details
- p.Tyr68Cys
- gnomAD 1-9715600-CTA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 32.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available