E45K (p.Glu45Lys) variant of NPPB (Natriuretic peptides B)
E45K (p.Glu45Lys) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- gnomAD rs1356436410
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.03
- CADD 16.80
- PolyPhen-2 0.12
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available