I130M (p.Ile130Met) variant of PIK3CB (P42338)
I130M (p.Ile130Met) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I130M (p.Ile130Met) variant details
- p.Ile130Met
- TOPMed rs1038798850
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available