R47H (p.Arg47His) variant of NPPB (Natriuretic peptides B)
R47H (p.Arg47His) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
R47H (p.Arg47His) variant details
- p.Arg47His
- rs5229
- UniProt VAR 014581
- 1000Genomes rs5229
- ESP rs5229
- Missense
- Variant Prioritization Score for Impact Estimate 0.0521
- REVEL 0.02
- CADD 6.52
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the HGDP:KALASH population (allele frequency 0.071)
- Structural context available