R72H (p.Arg72His) variant of NPPB (Natriuretic peptides B)
R72H (p.Arg72His) in NPPB (Natriuretic peptides B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data and structural context.
R72H (p.Arg72His) variant details
- p.Arg72His
- rs61761991
- ClinGen CA597234
- ClinVar RCV000895831
- 1000Genomes rs61761991
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0296
- REVEL 0.01
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.031)
- Structural context available