M65L (p.Met65Leu) variant of CYBB (NADPH oxidase 2)
M65L (p.Met65Leu) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
M65L (p.Met65Leu) variant details
- p.Met65Leu
- gnomAD X-37783541-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.25
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available