R97Q (p.Arg97Gln) variant of PIK3CB (P42338)
R97Q (p.Arg97Gln) 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.
R97Q (p.Arg97Gln) variant details
- p.Arg97Gln
- cosmic curated COSV56688
- gnomAD rs1467994756
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 24.50
- PolyPhen-2 0.48
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.00017)