H52H (p.His52His) variant of NOS3 (Nitric oxide synthase 3)
H52H (p.His52His) in NOS3 (Nitric oxide synthase 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
H52H (p.His52His) variant details
- p.His52His
- gnomAD 7-150993959-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available