P55Q (p.Pro55Gln) variant of NOS3 (Nitric oxide synthase 3)
P55Q (p.Pro55Gln) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P55Q (p.Pro55Gln) variant details
- p.Pro55Gln
- gnomAD 7-150995208-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.07
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available