G20E (p.Gly20Glu) variant of NOS3 (Nitric oxide synthase 3)
G20E (p.Gly20Glu) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G20E (p.Gly20Glu) variant details
- p.Gly20Glu
- gnomAD 7-150993862-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.16
- CADD 24.40
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available