S53G (p.Ser53Gly) variant of NOS3 (Nitric oxide synthase 3)
S53G (p.Ser53Gly) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S53G (p.Ser53Gly) variant details
- p.Ser53Gly
- gnomAD 7-150993960-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.11
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available