Q29E (p.Gln29Glu) variant of NOS3 (Nitric oxide synthase 3)
Q29E (p.Gln29Glu) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q29E (p.Gln29Glu) variant details
- p.Gln29Glu
- gnomAD 7-150993888-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.06
- CADD 15.90
- PolyPhen-2 0.15
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available