G2A (p.Gly2Ala) variant of NOS3 (Nitric oxide synthase 3)
G2A (p.Gly2Ala) 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.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- gnomAD 7-150993808-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.12
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available