P50Q (p.Pro50Gln) variant of NOS3 (Nitric oxide synthase 3)
P50Q (p.Pro50Gln) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P50Q (p.Pro50Gln) variant details
- p.Pro50Gln
- gnomAD 7-150993952-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.07
- CADD 19.70
- PolyPhen-2 0.29
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available