L46R (p.Leu46Arg) variant of NOS3 (Nitric oxide synthase 3)
L46R (p.Leu46Arg) in NOS3 (Nitric oxide synthase 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L46R (p.Leu46Arg) variant details
- p.Leu46Arg
- TOPMed rs996081462
- gnomAD rs996081462
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.06
- CADD 8.83
- PolyPhen-2 0.06
- SIFT 0.53
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available