E26Q (p.Glu26Gln) variant of APOA1 (Apolipoprotein A-I)
E26Q (p.Glu26Gln) 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 not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E26Q (p.Glu26Gln) variant details
- p.Glu26Gln
- rs1197166743
- ClinGen CA382721223
- ClinVar RCV002815764
- gnomAD rs1197166743
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.21
- CADD 25.50
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available