P54H (p.Pro54His) variant of NOS3 (Nitric oxide synthase 3)
P54H (p.Pro54His) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P54H (p.Pro54His) variant details
- p.Pro54His
- gnomAD 7-150995205-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.47
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available