M65T (p.Met65Thr) variant of CYBB (NADPH oxidase 2)
M65T (p.Met65Thr) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
M65T (p.Met65Thr) variant details
- p.Met65Thr
- gnomAD X-37783542-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.65
- CADD 23.00
- PolyPhen-2 0.27
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available