R72C (p.Arg72Cys) variant of NPPB (Natriuretic peptides B)
R72C (p.Arg72Cys) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R72C (p.Arg72Cys) variant details
- p.Arg72Cys
- ExAC rs762337879
- TOPMed rs762337879
- gnomAD rs762337879
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.08
- CADD 11.60
- PolyPhen-2 0.20
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available