N26K (p.Asn26Lys) variant of NPPA (Natriuretic peptides A)
N26K (p.Asn26Lys) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
N26K (p.Asn26Lys) variant details
- p.Asn26Lys
- rs770401799
- ClinGen CA597117
- ClinVar RCV000227474
- ClinVar RCV002518347
- Uncertain significance
- Atrial fibrillation, familial, 6; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.16
- CADD 11.50
- PolyPhen-2 0.25
- SIFT 0.14
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)