L17P (p.Leu17Pro) variant of NOS3 (Nitric oxide synthase 3)
L17P (p.Leu17Pro) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- gnomAD 7-150993853-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available