L47W (p.Leu47Trp) variant of NPPA (Natriuretic peptides A)
L47W (p.Leu47Trp) 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 0.62 / 1. The record also includes population frequency data.
L47W (p.Leu47Trp) variant details
- p.Leu47Trp
- rs762538922
- ClinGen CA597077
- ClinVar RCV003518648
- ExAC rs762538922
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.59
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.65
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)