Q44H (p.Gln44His) variant of NPPB (Natriuretic peptides B)
Q44H (p.Gln44His) in NPPB (Natriuretic peptides B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q44H (p.Gln44His) variant details
- p.Gln44His
- rs751994081
- gnomAD 1-11858702-C-CTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available