P48Q (p.Pro48Gln) variant of NOS3 (Nitric oxide synthase 3)
P48Q (p.Pro48Gln) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P48Q (p.Pro48Gln) variant details
- p.Pro48Gln
- gnomAD 7-150993946-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.03
- CADD 17.10
- PolyPhen-2 0.53
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available