N70H (p.Asn70His) variant of PIK3CB (P42338)
N70H (p.Asn70His) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
N70H (p.Asn70His) variant details
- p.Asn70His
- cosmic curated COSV10586
- TOPMed rs1030113277
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the East Asian population (allele frequency 7.6e-05)