N30S (p.Asn30Ser) variant of NPPA (Natriuretic peptides A)
N30S (p.Asn30Ser) 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 0.09 / 1. The record also includes population frequency data.
N30S (p.Asn30Ser) variant details
- p.Asn30Ser
- rs747690078
- ClinGen CA597113
- ClinVar RCV001037523
- ExAC rs747690078
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.0904
- REVEL 0.06
- CADD 0.44
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)