S6R (p.Ser6Arg) variant of NOS3 (Nitric oxide synthase 3)
S6R (p.Ser6Arg) in NOS3 (Nitric oxide synthase 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S6R (p.Ser6Arg) variant details
- p.Ser6Arg
- gnomAD 7-150993820-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 15.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available