D44E (p.Asp44Glu) variant of APOA1 (Apolipoprotein A-I)
D44E (p.Asp44Glu) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial amyloid polyneuropathy, Iowa type; Hypoalphalipoproteinemia, primary, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
D44E (p.Asp44Glu) variant details
- p.Asp44Glu
- ExAC rs755740688
- TOPMed rs755740688
- gnomAD rs755740688
- Uncertain significance
- Familial amyloid polyneuropathy, Iowa type; Hypoalphalipoproteinemia, primary, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.0694
- REVEL 0.07
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Familial amyloid polyneuropathy, Iowa type; Hypoalphalipoprotein)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available