L71F (p.Leu71Phe) variant of PIK3CB (P42338)
L71F (p.Leu71Phe) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
L71F (p.Leu71Phe) variant details
- p.Leu71Phe
- ExAC rs746275978
- gnomAD rs746275978
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 23.40
- PolyPhen-2 0.82
- SIFT 0.29
- Most common in the South Asian population (allele frequency 2.3e-05)