G16C (p.Gly16Cys) variant of NOS3 (Nitric oxide synthase 3)
G16C (p.Gly16Cys) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- gnomAD 7-150993849-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.21
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available