E65S (p.Glu65Ser) variant of NPPB (Natriuretic peptides B)
E65S (p.Glu65Ser) in NPPB (Natriuretic peptides B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E65S (p.Glu65Ser) variant details
- p.Glu65Ser
- gnomAD 1-11858408-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.494
- CADD 20.90
- Population evidence available
- Structural context available
- Literature evidence available