S53S (p.Ser53Ser) variant of NOS3 (Nitric oxide synthase 3)
S53S (p.Ser53Ser) in NOS3 (Nitric oxide synthase 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S53S (p.Ser53Ser) variant details
- p.Ser53Ser
- rs756506565
- gnomAD 7-150995203-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 15.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available