S44I (p.Ser44Ile) variant of NOS3 (Nitric oxide synthase 3)
S44I (p.Ser44Ile) in NOS3 (Nitric oxide synthase 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S44I (p.Ser44Ile) variant details
- p.Ser44Ile
- gnomAD 7-150993931-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 20.40
- Population evidence available
- Structural context available
- Literature evidence available