A49P (p.Ala49Pro) variant of NOS3 (Nitric oxide synthase 3)
A49P (p.Ala49Pro) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A49P (p.Ala49Pro) variant details
- p.Ala49Pro
- gnomAD rs1294157279
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.05
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available