C100Y (p.Cys100Tyr) variant of PIK3CB (P42338)
C100Y (p.Cys100Tyr) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
C100Y (p.Cys100Tyr) variant details
- p.Cys100Tyr
- ExAC rs767424578
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 25.60
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)