E45D (p.Glu45Asp) variant of NPPB (Natriuretic peptides B)
E45D (p.Glu45Asp) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- gnomAD 1-11858467-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0871
- REVEL 0.02
- CADD 14.10
- PolyPhen-2 0.70
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available