A8D (p.Ala8Asp) variant of NOS3 (Nitric oxide synthase 3)
A8D (p.Ala8Asp) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- gnomAD 7-150993826-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.07
- CADD 20.30
- PolyPhen-2 0.02
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available