S56C (p.Ser56Cys) variant of NOS3 (Nitric oxide synthase 3)
S56C (p.Ser56Cys) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S56C (p.Ser56Cys) variant details
- p.Ser56Cys
- gnomAD 7-150995210-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.08
- CADD 23.10
- PolyPhen-2 0.79
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available