E49D (p.Glu49Asp) variant of NPPA (Natriuretic peptides A)
E49D (p.Glu49Asp) in NPPA (Natriuretic peptides A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- rs1645076913
- gnomAD 1-11847411-ATCTTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 27.40
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available