G30V (p.Gly30Val) variant of NOS3 (Nitric oxide synthase 3)
G30V (p.Gly30Val) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- gnomAD 7-150993892-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.05
- CADD 15.90
- PolyPhen-2 0.17
- SIFT 0.36
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available