A50G (p.Ala50Gly) variant of PIK3CB (P42338)
A50G (p.Ala50Gly) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
A50G (p.Ala50Gly) variant details
- p.Ala50Gly
- gnomAD rs1168911534
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- CADD 27.60
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)