P50T (p.Pro50Thr) variant of NOS3 (Nitric oxide synthase 3)
P50T (p.Pro50Thr) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P50T (p.Pro50Thr) variant details
- p.Pro50Thr
- gnomAD 7-150993951-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.04
- CADD 14.90
- PolyPhen-2 0.06
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available