P58L (p.Pro58Leu) variant of NOS3 (Nitric oxide synthase 3)
P58L (p.Pro58Leu) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- ExAC rs769056386
- TOPMed rs769056386
- gnomAD rs769056386
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.01
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available