S56E (p.Ser56Glu) variant of NOS3 (Nitric oxide synthase 3)
S56E (p.Ser56Glu) in NOS3 (Nitric oxide synthase 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S56E (p.Ser56Glu) variant details
- p.Ser56Glu
- rs1323072201
- gnomAD 7-150995202-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.838
- CADD 36.00
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available