A43S (p.Ala43Ser) variant of NOS3 (Nitric oxide synthase 3)
A43S (p.Ala43Ser) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- gnomAD 7-150993930-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.01
- CADD 4.70
- PolyPhen-2 0.05
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available