R48Q (p.Arg48Gln) variant of PIK3CB (P42338)
R48Q (p.Arg48Gln) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
R48Q (p.Arg48Gln) variant details
- p.Arg48Gln
- cosmic curated COSV56685
- gnomAD rs1374478281
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.08
- Most common in the South Asian population (allele frequency 3.5e-05)