G39R (p.Gly39Arg) variant of PIK3CB (P42338)
G39R (p.Gly39Arg) 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.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- ESP rs370148572
- ExAC rs370148572
- TOPMed rs370148572
- gnomAD rs370148572
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 7.2e-05)