A49E (p.Ala49Glu) variant of NOS3 (Nitric oxide synthase 3)
A49E (p.Ala49Glu) in NOS3 (Nitric oxide synthase 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A49E (p.Ala49Glu) variant details
- p.Ala49Glu
- ExAC rs755710890
- TOPMed rs755710890
- gnomAD rs755710890
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.04
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.4e-05)
- Structural context available