E69A (p.Glu69Ala) variant of NPPA (Natriuretic peptides A)
E69A (p.Glu69Ala) 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 not provided; Atrial fibrillation, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E69A (p.Glu69Ala) variant details
- p.Glu69Ala
- rs376184349
- ClinGen CA597060
- ClinVar RCV000498887
- ClinVar RCV001308826
- Uncertain significance
- not provided; Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.18
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available