S57F (p.Ser57Phe) variant of NOS3 (Nitric oxide synthase 3)
S57F (p.Ser57Phe) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S57F (p.Ser57Phe) variant details
- p.Ser57Phe
- gnomAD rs1231553866
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.04
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available