p.Gln9 Glu10del variant of NOS3 (Nitric oxide synthase 3)
p.Gln9 Glu10del in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln9 Glu10del variant details
- rs2117095233
- gnomAD 7-150993826-CCCAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 14.20
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Literature evidence available