R48W (p.Arg48Trp) variant of PIK3CB (P42338)
R48W (p.Arg48Trp) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
R48W (p.Arg48Trp) variant details
- p.Arg48Trp
- cosmic curated COSV56689
- 1000Genomes rs545189148
- ExAC rs545189148
- gnomAD rs545189148
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)