p.Val7 Pro14del variant of NOS3 (Nitric oxide synthase 3)
p.Val7 Pro14del in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val7 Pro14del variant details
- gnomAD 7-150993820-GCGTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 17.40
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available