L46V (p.Leu46Val) variant of NOS3 (Nitric oxide synthase 3)
L46V (p.Leu46Val) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L46V (p.Leu46Val) variant details
- p.Leu46Val
- gnomAD 7-150993939-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0786
- REVEL 0.02
- CADD 1.57
- PolyPhen-2 0.03
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available