G20R (p.Gly20Arg) variant of NOS3 (Nitric oxide synthase 3)
G20R (p.Gly20Arg) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- cosmic curated COSV10512
- TOPMed rs1178452647
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.15
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available