E45G (p.Glu45Gly) variant of NPPB (Natriuretic peptides B)
E45G (p.Glu45Gly) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E45G (p.Glu45Gly) variant details
- p.Glu45Gly
- gnomAD 1-11858468-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.03
- CADD 22.60
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available