H52Y (p.His52Tyr) variant of NOS3 (Nitric oxide synthase 3)
H52Y (p.His52Tyr) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H52Y (p.His52Tyr) variant details
- p.His52Tyr
- gnomAD 7-150993957-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.06
- CADD 12.60
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available