D2E (p.Asp2Glu) variant of NPPB (Natriuretic peptides B)
D2E (p.Asp2Glu) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- TOPMed rs1347544955
- gnomAD rs1347544955
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.03
- CADD 11.70
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available