S124P (p.Ser124Pro) variant of PIK3CB (P42338)
S124P (p.Ser124Pro) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S124P (p.Ser124Pro) variant details
- p.Ser124Pro
- TOPMed rs900228786
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 27.70
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available