S39I (p.Ser39Ile) variant of NOS3 (Nitric oxide synthase 3)
S39I (p.Ser39Ile) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S39I (p.Ser39Ile) variant details
- p.Ser39Ile
- gnomAD 7-150993919-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.03
- CADD 13.40
- PolyPhen-2 0.19
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available