F17L (p.Phe17Leu) variant of NPPA (Natriuretic peptides A)
F17L (p.Phe17Leu) 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 0.05 / 1. The record also includes population frequency data.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- rs766292107
- ClinGen CA597126
- ClinVar RCV001934072
- ExAC rs766292107
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.0518
- REVEL 0.02
- CADD 4.08
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)