G12E (p.Gly12Glu) variant of NOS3 (Nitric oxide synthase 3)
G12E (p.Gly12Glu) in NOS3 (Nitric oxide synthase 3) is a missense change. Clinical records from ClinVar, EBI, 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 0.28 / 1. The record also includes population frequency data and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- rs757589399
- ClinGen CA4566460
- ClinVar RCV004488200
- ExAC rs757589399
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.09
- CADD 20.70
- PolyPhen-2 0.11
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available