E56G (p.Glu56Gly) variant of NPPA (Natriuretic peptides A)
E56G (p.Glu56Gly) in NPPA (Natriuretic peptides A) 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 and structural context.
E56G (p.Glu56Gly) variant details
- p.Glu56Gly
- gnomAD rs1396314891
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.11
- CADD 23.20
- PolyPhen-2 0.25
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available