L4F (p.Leu4Phe) variant of NOS3 (Nitric oxide synthase 3)
L4F (p.Leu4Phe) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- gnomAD 7-150993815-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.05
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available