L46P (p.Leu46Pro) variant of NOS3 (Nitric oxide synthase 3)
L46P (p.Leu46Pro) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- gnomAD 7-150993940-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.09
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available