E45E (p.Glu45Glu) variant of NPPB (Natriuretic peptides B)
E45E (p.Glu45Glu) in NPPB (Natriuretic peptides B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E45E (p.Glu45Glu) variant details
- p.Glu45Glu
- rs1645134524
- gnomAD 1-11858467-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.48
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available