L46F (p.Leu46Phe) variant of NOS3 (Nitric oxide synthase 3)
L46F (p.Leu46Phe) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L46F (p.Leu46Phe) variant details
- p.Leu46Phe
- gnomAD 7-150993939-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0977
- REVEL 0.03
- CADD 4.97
- PolyPhen-2 0.17
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available