A8S (p.Ala8Ser) variant of NOS3 (Nitric oxide synthase 3)
A8S (p.Ala8Ser) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 7-150993825-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.04
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available