E51* (p.Glu51Ter) variant of NOS3 (Nitric oxide synthase 3)
E51* (p.Glu51Ter) in NOS3 (Nitric oxide synthase 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E51* (p.Glu51Ter) variant details
- p.Glu51Ter
- gnomAD rs1344640868
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 36.00
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available