S53C (p.Ser53Cys) variant of NOS3 (Nitric oxide synthase 3)
S53C (p.Ser53Cys) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S53C (p.Ser53Cys) variant details
- p.Ser53Cys
- gnomAD 7-150993960-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.12
- CADD 26.90
- PolyPhen-2 0.14
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available