N7S (p.Asn7Ser) variant of CYBB (NADPH oxidase 2)
N7S (p.Asn7Ser) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
N7S (p.Asn7Ser) variant details
- p.Asn7Ser
- TOPMed rs1928915980
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.78
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available