E45* (p.Glu45Ter) variant of NPPB (Natriuretic peptides B)
E45* (p.Glu45Ter) in NPPB (Natriuretic peptides B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes population frequency data, published literature, and structural context.
E45* (p.Glu45Ter) variant details
- p.Glu45Ter
- gnomAD 1-11858469-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.979
- CADD 40.00
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available