A70G (p.Ala70Gly) variant of NPPA (Natriuretic peptides A)
A70G (p.Ala70Gly) 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 0.16 / 1. The record also includes population frequency data and structural context.
A70G (p.Ala70Gly) variant details
- p.Ala70Gly
- rs13305987
- ClinGen CA338451137
- ClinVar RCV001885790
- ExAC rs13305987
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.05
- CADD 7.75
- PolyPhen-2 0.26
- SIFT 0.10
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available