S124* (p.Ser124Ter) variant of PIK3CB (P42338)
S124* (p.Ser124Ter) in PIK3CB (P42338) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
S124* (p.Ser124Ter) variant details
- p.Ser124Ter
- cosmic curated COSV10461
- cosmic curated COSV56682
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.844
- CADD 37.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available