R40L (p.Arg40Leu) variant of NOS3 (Nitric oxide synthase 3)
R40L (p.Arg40Leu) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- gnomAD 7-150993922-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0496
- REVEL 0.04
- CADD 1.08
- PolyPhen-2 0.01
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available