I6V (p.Ile6Val) variant of PIK3CB (P42338)
I6V (p.Ile6Val) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
I6V (p.Ile6Val) variant details
- p.Ile6Val
- ExAC rs781669505
- gnomAD rs781669505
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)