Q18* (p.Gln18Ter) variant of NPPA (Natriuretic peptides A)
Q18* (p.Gln18Ter) in NPPA (Natriuretic peptides A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- ExAC rs755955558
- gnomAD rs755955558
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 35.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)