P34R (p.Pro34Arg) variant of NOS3 (Nitric oxide synthase 3)
P34R (p.Pro34Arg) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- gnomAD 7-150993904-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.06
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available