E10A (p.Glu10Ala) variant of NOS3 (Nitric oxide synthase 3)
E10A (p.Glu10Ala) 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.
E10A (p.Glu10Ala) variant details
- p.Glu10Ala
- gnomAD 7-150993832-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.07
- CADD 21.00
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available