A8P (p.Ala8Pro) variant of NOS3 (Nitric oxide synthase 3)
A8P (p.Ala8Pro) in NOS3 (Nitric oxide synthase 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- gnomAD 7-150993823-TGG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available