P42L (p.Pro42Leu) variant of NOS3 (Nitric oxide synthase 3)
P42L (p.Pro42Leu) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- gnomAD 7-150993928-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.14
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available