E48K (p.Glu48Lys) variant of NPPA (Natriuretic peptides A)
E48K (p.Glu48Lys) in NPPA (Natriuretic peptides A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- rs771808035
- gnomAD 1-11847420-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 29.50
- Population evidence available
- Structural context available
- Literature evidence available