P48T (p.Pro48Thr) variant of NOS3 (Nitric oxide synthase 3)
P48T (p.Pro48Thr) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P48T (p.Pro48Thr) variant details
- p.Pro48Thr
- gnomAD 7-150993945-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.03
- CADD 15.80
- PolyPhen-2 0.14
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available