H52Q (p.His52Gln) variant of NOS3 (Nitric oxide synthase 3)
H52Q (p.His52Gln) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H52Q (p.His52Gln) variant details
- p.His52Gln
- gnomAD 7-150993959-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.13
- CADD 17.80
- PolyPhen-2 0.04
- SIFT 0.80
- Population evidence available
- Structural context available
- Literature evidence available