T88S (p.Thr88Ser) variant of CYBB (NADPH oxidase 2)
T88S (p.Thr88Ser) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T88S (p.Thr88Ser) variant details
- p.Thr88Ser
- ExAC rs782493265
- TOPMed rs782493265
- gnomAD rs782493265
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.33
- CADD 19.70
- PolyPhen-2 0.33
- SIFT 0.42
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available