D55E (p.Asp55Glu) variant of NPPA (Natriuretic peptides A)
D55E (p.Asp55Glu) 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 0.08 / 1. The record also includes population frequency data and structural context.
D55E (p.Asp55Glu) variant details
- p.Asp55Glu
- rs941150669
- ClinGen CA18010812
- ClinVar RCV002917315
- TOPMed rs941150669
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.0755
- REVEL 0.03
- CADD 8.25
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available