V7M (p.Val7Met) variant of NOS3 (Nitric oxide synthase 3)
V7M (p.Val7Met) 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 0.40 / 1. The record also includes population frequency data and structural context.
V7M (p.Val7Met) variant details
- p.Val7Met
- 1000Genomes rs147771478
- ESP rs147771478
- ExAC rs147771478
- TOPMed rs147771478
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.14
- CADD 24.40
- PolyPhen-2 0.87
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available