S53R (p.Ser53Arg) variant of NOS3 (Nitric oxide synthase 3)
S53R (p.Ser53Arg) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S53R (p.Ser53Arg) variant details
- p.Ser53Arg
- ExAC rs756506565
- gnomAD rs756506565
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.12
- CADD 17.20
- PolyPhen-2 0.05
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available