N65S (p.Asn65Ser) variant of PIK3CB (P42338)
N65S (p.Asn65Ser) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
N65S (p.Asn65Ser) variant details
- p.Asn65Ser
- ExAC rs747491179
- TOPMed rs747491179
- gnomAD rs747491179
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the East Asian population (allele frequency 0.00019)