I55V (p.Ile55Val) variant of PIK3CB (P42338)
I55V (p.Ile55Val) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
I55V (p.Ile55Val) variant details
- p.Ile55Val
- TOPMed rs2045626749
- gnomAD rs2045626749
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 23.20
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)