E69K (p.Glu69Lys) variant of NPPA (Natriuretic peptides A)
E69K (p.Glu69Lys) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E69K (p.Glu69Lys) variant details
- p.Glu69Lys
- TOPMed rs1645076326
- gnomAD rs1645076326
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.30
- CADD 23.30
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available