E60D (p.Glu60Asp) variant of NPPB (Natriuretic peptides B)
E60D (p.Glu60Asp) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- gnomAD 1-11858422-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.11
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available