R9W (p.Arg9Trp) variant of NPPB (Natriuretic peptides B)
R9W (p.Arg9Trp) in NPPB (Natriuretic peptides B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- rs148807468
- ClinGen CA597305
- ClinVar RCV004277165
- ESP rs148807468
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0842
- REVEL 0.03
- CADD 13.50
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available