S53N (p.Ser53Asn) variant of NOS3 (Nitric oxide synthase 3)
S53N (p.Ser53Asn) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S53N (p.Ser53Asn) variant details
- p.Ser53Asn
- gnomAD 7-150993961-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.15
- CADD 28.40
- PolyPhen-2 0.03
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available