E54del (p.Glu54del) variant of NPPA (Natriuretic peptides A)
E54del (p.Glu54del) in NPPA (Natriuretic peptides A) 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.
E54del (p.Glu54del) variant details
- gnomAD 1-11847398-ATCT-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 17.90
- Population evidence available
- Structural context available
- Literature evidence available