E51K (p.Glu51Lys) variant of NOS3 (Nitric oxide synthase 3)
E51K (p.Glu51Lys) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- gnomAD rs1344640868
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.10
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.84
- Population evidence available
- Structural context available