E56K (p.Glu56Lys) variant of NPPA (Natriuretic peptides A)
E56K (p.Glu56Lys) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E56K (p.Glu56Lys) variant details
- p.Glu56Lys
- gnomAD 1-11847397-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.16
- CADD 22.60
- PolyPhen-2 0.40
- SIFT 0.11
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available