p.Lys28 Gly30delinsAsn variant of NOS3 (Nitric oxide synthase 3)
p.Lys28 Gly30delinsAsn in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
p.Lys28 Gly30delinsAsn variant details
- rs1331591723
- gnomAD 7-150993886-AGCAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 16.50
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available