Q29H (p.Gln29His) variant of APOA1 (Apolipoprotein A-I)
Q29H (p.Gln29His) 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 0.29 / 1. The record also includes population frequency data and structural context.
Q29H (p.Gln29His) variant details
- p.Gln29His
- TOPMed rs751028421
- Uncertain significance
- Familial amyloid polyneuropathy, Iowa type; Hypoalphalipoproteinemia, primary, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.12
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Familial amyloid polyneuropathy, Iowa type; Hypoalphalipoprotein)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available