F40L (p.Phe40Leu) variant of NPPA (Natriuretic peptides A)
F40L (p.Phe40Leu) 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 0.23 / 1. The record also includes population frequency data.
F40L (p.Phe40Leu) variant details
- p.Phe40Leu
- rs1645078375
- ClinGen CA338451686
- ClinVar RCV001062850
- TOPMed rs1645078375
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.14
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.59
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)