A70S (p.Ala70Ser) variant of NPPA (Natriuretic peptides A)
A70S (p.Ala70Ser) 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 0.15 / 1. The record also includes population frequency data and structural context.
A70S (p.Ala70Ser) variant details
- p.Ala70Ser
- rs1433555315
- ClinGen CA338451150
- ClinVar RCV000795825
- TOPMed rs1433555315
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.06
- CADD 7.29
- PolyPhen-2 0.12
- SIFT 0.23
- 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 8.8e-05)
- Structural context available