G30D (p.Gly30Asp) variant of NOS3 (Nitric oxide synthase 3)
G30D (p.Gly30Asp) in NOS3 (Nitric oxide synthase 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- rs773099942
- ExAC rs773099942
- gnomAD rs773099942
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.08
- CADD 16.30
- PolyPhen-2 0.12
- SIFT 0.28
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available