D45G (p.Asp45Gly) variant of NPPA (Natriuretic peptides A)
D45G (p.Asp45Gly) 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 0.49 / 1. The record also includes population frequency data.
D45G (p.Asp45Gly) variant details
- p.Asp45Gly
- rs760988004
- ClinGen CA597080
- ClinVar RCV001901960
- ExAC rs760988004
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.36
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)