R47L (p.Arg47Leu) variant of NPPB (Natriuretic peptides B)
R47L (p.Arg47Leu) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
R47L (p.Arg47Leu) variant details
- p.Arg47Leu
- gnomAD 1-11858462-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0411
- REVEL 0.01
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available