K50M (p.Lys50Met) variant of NPPA (Natriuretic peptides A)
K50M (p.Lys50Met) 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 0.36 / 1. The record also includes population frequency data and structural context.
K50M (p.Lys50Met) variant details
- p.Lys50Met
- rs984830140
- ClinGen CA18010817
- ClinVar RCV001372214
- TOPMed rs984830140
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.27
- CADD 25.40
- PolyPhen-2 0.92
- SIFT 0.04
- 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 0.00091)
- Structural context available