I15T (p.Ile15Thr) variant of CYBB (NADPH oxidase 2)
I15T (p.Ile15Thr) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
I15T (p.Ile15Thr) variant details
- p.Ile15Thr
- TOPMed rs1928917046
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.66
- CADD 24.10
- PolyPhen-2 0.12
- SIFT 0.04
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available