L46I (p.Leu46Ile) variant of NOS3 (Nitric oxide synthase 3)
L46I (p.Leu46Ile) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L46I (p.Leu46Ile) variant details
- p.Leu46Ile
- gnomAD 7-150993939-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0826
- REVEL 0.03
- CADD 2.29
- PolyPhen-2 0.03
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available