E51Q (p.Glu51Gln) variant of NOS3 (Nitric oxide synthase 3)
E51Q (p.Glu51Gln) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E51Q (p.Glu51Gln) variant details
- p.Glu51Gln
- gnomAD 7-150993954-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.08
- CADD 18.00
- PolyPhen-2 0.03
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available