A43E (p.Ala43Glu) variant of NOS3 (Nitric oxide synthase 3)
A43E (p.Ala43Glu) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A43E (p.Ala43Glu) variant details
- p.Ala43Glu
- gnomAD 7-150993931-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.03
- CADD 4.66
- PolyPhen-2 0.07
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available