A72S (p.Ala72Ser) variant of NPPA (Natriuretic peptides A)
A72S (p.Ala72Ser) in NPPA (Natriuretic peptides A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A72S (p.Ala72Ser) variant details
- p.Ala72Ser
- gnomAD 1-11847349-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available