V9L (p.Val9Leu) variant of NPPA (Natriuretic peptides A)
V9L (p.Val9Leu) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- 1000Genomes rs143419574
- ESP rs143419574
- TOPMed rs143419574
- gnomAD rs143419574
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.0383
- REVEL 0.03
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)