E53G (p.Glu53Gly) variant of ABCA1 (O95477)
E53G (p.Glu53Gly) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E53G (p.Glu53Gly) variant details
- p.Glu53Gly
- TOPMed rs1051504651
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.90
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available