G42E (p.Gly42Glu) variant of NPPB (Natriuretic peptides B)
G42E (p.Gly42Glu) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
G42E (p.Gly42Glu) variant details
- p.Gly42Glu
- ExAC rs765544521
- gnomAD rs765544521
- Missense
- Variant Prioritization Score for Impact Estimate 0.0575
- REVEL 0.04
- CADD 2.46
- PolyPhen-2 0.03
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available