G18R (p.Gly18Arg) variant of NOS3 (Nitric oxide synthase 3)
G18R (p.Gly18Arg) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- gnomAD 7-150993855-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.82
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available