P48S (p.Pro48Ser) variant of NOS3 (Nitric oxide synthase 3)
P48S (p.Pro48Ser) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- ExAC rs750868781
- TOPMed rs750868781
- gnomAD rs750868781
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.03
- CADD 16.70
- PolyPhen-2 0.23
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00021)
- Structural context available