E39A (p.Glu39Ala) variant of NPPB (Natriuretic peptides B)
E39A (p.Glu39Ala) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E39A (p.Glu39Ala) variant details
- p.Glu39Ala
- gnomAD 1-11858718-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.04
- CADD 14.80
- PolyPhen-2 0.26
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available