L44M (p.Leu44Met) variant of PIK3CB (P42338)
L44M (p.Leu44Met) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L44M (p.Leu44Met) variant details
- p.Leu44Met
- ExAC rs778448578
- TOPMed rs778448578
- gnomAD rs778448578
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 14.40
- PolyPhen-2 0.34
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available