R72G (p.Arg72Gly) variant of NPPB (Natriuretic peptides B)
R72G (p.Arg72Gly) in NPPB (Natriuretic peptides B) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. 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.
R72G (p.Arg72Gly) variant details
- p.Arg72Gly
- ExAC rs762337879
- TOPMed rs762337879
- gnomAD rs762337879
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0458
- REVEL 0.02
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available