T42T (p.Thr42Thr) variant of CYBB (NADPH oxidase 2)
T42T (p.Thr42Thr) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T42T (p.Thr42Thr) variant details
- p.Thr42Thr
- rs782767053
- gnomAD X-37782168-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 8.00
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Literature evidence available