N70D (p.Asn70Asp) variant of PIK3CB (P42338)
N70D (p.Asn70Asp) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
N70D (p.Asn70Asp) variant details
- p.Asn70Asp
- TOPMed rs1030113277
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 19.60
- PolyPhen-2 0.10
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 3e-05)