L69S (p.Leu69Ser) variant of CYBB (NADPH oxidase 2)
L69S (p.Leu69Ser) in CYBB (NADPH oxidase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L69S (p.Leu69Ser) variant details
- p.Leu69Ser
- rs1556464875
- gnomAD X-37783552-CTTGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 31.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available