H52R (p.His52Arg) variant of NOS3 (Nitric oxide synthase 3)
H52R (p.His52Arg) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H52R (p.His52Arg) variant details
- p.His52Arg
- gnomAD 7-150993958-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0911
- REVEL 0.08
- CADD 5.17
- PolyPhen-2 0.04
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available