A51T (p.Ala51Thr) variant of CYBB (NADPH oxidase 2)
A51T (p.Ala51Thr) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- gnomAD X-37783499-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.44
- CADD 22.70
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available